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Congenital Malformations

This value set includes codes from the following code systems:

Include these codes as defined in http://snomed.info/sct

Code | Display
10007009 | Coffin-Siris syndrome (disorder) |
10033001 | Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder) |
10078003 | Turner's tooth (disorder) |
10155006 | Bilateral congenital dislocation of hip (disorder) |
10170007 | Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder) |
10283004 | Congenital stenosis of cervical canal (disorder) |
10362008 | Accessory spleen (disorder) |
10375008 | Extrapulmonary subpleural pulmonary sequestration (disorder) |
103771000119101 | Lipoma co-occurrent with spina bifida (disorder) |
10451007 | Double aortic arch (disorder) |
1051005 | Hyperplasia of islet alpha cells with gastrin excess (disorder) |
105985007 | Osteochondrodysplasia syndrome (disorder) |
105986008 | Congenital skeletal dysplasia (disorder) |
105989001 | Malformation sequence (disorder) |
105992002 | Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder) |
10631000 | Trilobed left lung (disorder) |
10653003 | Congenital mandibular hyperplasia (disorder) |
10736081000119101 | Congenital atresia of vagina (disorder) |
10736711000119105 | Congenital hypoplasia of uterine cervix (disorder) |
10738211000119102 | Congenital fistula between uterus and urinary tract (disorder) |
10818008 | Congenital malposition of heart (disorder) |
1085291000119101 | Uranostaphyloschisis with cleft lip (disorder) |
1085301000119100 | Cleft of hard palate and cleft lip (disorder) |
1085331000119107 | Cleft palate and bilateral cleft lip (disorder) |
1085341000119103 | Cleft of soft palate and bilateral cleft lip (disorder) |
1085351000119101 | Cleft of soft palate and cleft lip (disorder) |
1085671000119100 | Congenital malformation of larynx and trachea (disorder) |
1085711000119101 | Congenital split ear lobe (disorder) |
10930001 | Congenital atresia of pulmonary artery (disorder) |
109379000 | Traumatic interventricular septal defect (disorder) |
109393007 | Otomandibular dysostosis (disorder) |
109394001 | Intermandibular dysostosis (disorder) |
109395000 | Temporo-auro-mandibular dysostosis (disorder) |
109397008 | Temporo-aural dysostosis (disorder) |
109398003 | Maxillary dysostosis (disorder) |
109399006 | Maxillo-zygomatic dysostosis (disorder) |
109400004 | Naso-maxillary dysostosis (disorder) |
109402007 | Anterior perimaxillary faciosynostosis (disorder) |
109403002 | Complete perimaxillary faciosynostosis (disorder) |
109404008 | Posterior perimaxillary faciosynostosis (disorder) |
109406005 | Vomero-premaxillary faciosynostosis (disorder) |
109407001 | Internasal dysostosis (disorder) |
109408006 | Frontal dysostosis (disorder) |
109409003 | Interfrontal craniofaciosynostosis (disorder) |
109410008 | Fronto-frontal dysostosis (disorder) |
109411007 | Fronto-naso-ethmoidal dysostosis (disorder) |
109413005 | Fronto-malar faciosynostosis (disorder) |
109414004 | Sphenoidal dysostosis (disorder) |
109415003 | Spheno-frontal dysostosis (disorder) |
109416002 | Spheno-fronto-parietal craniofaciosynostosis (disorder) |
109417006 | Parieto-occipital craniosynostosis (disorder) |
109418001 | Interparietal craniosynostosis (disorder) |
109419009 | Mandibuloacral dysostosis (disorder) |
109420003 | Dysostosis (disorder) |
109422006 | Accessory cuboid bone (disorder) |
109423001 | Accessory navicular bone of foot (disorder) |
109425008 | Single right ventricle (disorder) |
109426009 | Single left ventricle (disorder) |
109427000 | Supracristal ventricular septal defect (disorder) |
109428005 | Perimembranous ventricular septal defect (disorder) |
109429002 | Single muscular ventricular septum defect (disorder) |
109430007 | Multiple muscular ventricular septum defect (disorder) |
109431006 | Ebstein-like malformation of mitral valve (disorder) |
109432004 | Anomalous cardiac muscle bands (disorder) |
109434003 | Congenital anomaly of oral mucosa (disorder) |
109436001 | Moon's molar teeth (disorder) |
109437005 | Exaggerated cusp of tooth (disorder) |
109438000 | Exaggerated cingulum of tooth (disorder) |
109440005 | False anodontia (disorder) |
109442002 | Congenital absence of one tooth (disorder) |
109443007 | Anodontia of primary dentition (disorder) |
109444001 | Anodontia of permanent dentition (disorder) |
109445000 | Congenital hypodontia, multiple teeth, unrelated to systemic disease (disorder) |
109446004 | Congenital hypodontia, multiple teeth, related to systemic disease (disorder) |
109447008 | Familial hypodontia (disorder) |
109450006 | Supernumerary tooth identifiable by tooth number (disorder) |
109451005 | Supernumerary tooth unidentifiable by tooth number (disorder) |
109457009 | Fusion of crown of teeth (disorder) |
109459007 | Enamel spur (disorder) |
109460002 | Paired teeth microdontia (disorder) |
109461003 | Single tooth microdontia (disorder) |
109462005 | Multirooted tooth with divergent roots (disorder) |
109463000 | Multirooted tooth with convergent roots (disorder) |
109464006 | Lateral accessory root canals (disorder) |
109470000 | Intrinsic enamel discoloration of erythroblastosis fetalis (disorder) |
109471001 | Amelogenesis imperfecta, hypocalcification type (disorder) |
109472008 | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder) |
109473003 | Amelogenesis imperfecta, hypoplastic type with microdontia (disorder) |
109474009 | Amelogenesis imperfecta, pigmented hypomaturation type (disorder) |
109475005 | Amelogenesis imperfecta, hypomaturation type (disorder) |
109476006 | Amelogenesis imperfecta, hypoplastic type (disorder) |
109477002 | Enamel-renal syndrome (disorder) |
109478007 | Kohlschutter's syndrome (disorder) |
109492001 | Dentin dysplasia (disorder) |
109493006 | Dentin dysplasia, type I (disorder) |
109494000 | Dentin dysplasia, type II (disorder) |
109505006 | Crowding of teeth due to supernumerary teeth (disorder) |
109507003 | Protrusion of tooth (finding) |
109513007 | Congenital mandibular asymmetry (disorder) |
109514001 | Congenital maxillary asymmetry (disorder) |
109515000 | Congenital retrognathism (disorder) |
109517008 | Congenital horizontal mandibular hyperplasia (disorder) |
109518003 | Congenital vertical mandibular hyperplasia (disorder) |
109519006 | Congenital transverse mandibular hyperplasia (disorder) |
109520000 | Congenital alveolar hyperplasia of mandible (disorder) |
109521001 | Congenital alveolar hyperplasia of maxilla (disorder) |
109523003 | Congenital horizontal mandibular hypoplasia (disorder) |
109524009 | Congenital vertical mandibular hypoplasia (disorder) |
109525005 | Congenital transverse mandibular hypoplasia (disorder) |
109526006 | Congenital alveolar hypoplasia of mandible (disorder) |
109527002 | Congenital alveolar hypoplasia of maxilla (disorder) |
109528007 | Congenital transverse maxillary hypoplasia (disorder) |
109529004 | Congenital vertical maxillary hypoplasia (disorder) |
109532001 | Precocious exfoliation related to ectopic eruption of proximate tooth (disorder) |
109545002 | Hyperplastic tooth follicle (disorder) |
109546001 | Cleft of primary palate (disorder) |
109548000 | Bilateral cleft of primary palate (disorder) |
109549008 | Congenital anomaly of lip (disorder) |
109550008 | Congenital commissural pits (disorder) |
109551007 | Aberrant insertion of labial frenulum (disorder) |
109553005 | Palatal cyst of newborn (disorder) |
109554004 | Ectopic oral gastrointestinal cyst (disorder) |
109556002 | Aberrant insertion of frenum of tongue (disorder) |
109557006 | Congenital anomaly of uvula (disorder) |
109559009 | Riedel's lobe of liver (disorder) |
109560004 | Cystic testicular dysplasia (disorder) |
109561000 | Cerebrofacial dysplasia (disorder) |
10989008 | Talipes equinus (disorder) |
110992006 | Bifid nail (disorder) |
11102005 | Congenital fistula of lip (disorder) |
111030006 | Howel-Evans' syndrome (disorder) |
111303009 | Sjögren-Larsson syndrome (disorder) |
111306001 | Multiple lentigines syndrome (disorder) |
111307005 | Leprechaunism syndrome (disorder) |
111315008 | Longitudinal deficiency of tibia AND/OR fibula (disorder) |
111317000 | Congenital absence of nose (disorder) |
111318005 | Congenital cystic adenomatoid malformation of lung (disorder) |
111319002 | Truncus arteriosus, Edwards' type IV (disorder) |
111321007 | Right aortic arch (disorder) |
111322000 | Congenital anomaly of pulmonary veins (disorder) |
111323005 | Total anomalous pulmonary venous return (disorder) |
111324004 | Congenital absence of breast (disorder) |
111325003 | Horner's teeth (disorder) |
111327006 | Congenital anomaly of salivary gland (disorder) |
111328001 | Congenital diverticulum of pharynx (disorder) |
111329009 | Congenital prolapsed rectum (disorder) |
111330004 | Congenital rectovaginal fistula (disorder) |
111331000 | Congenital dilatation of lobar intrahepatic bile duct (disorder) |
111332007 | Male pseudohermaphroditism (disorder) |
111334008 | Embryonic cyst of epoophoron (disorder) |
111335009 | Congenital absence of vulva (disorder) |
111336005 | Congenital lateral curvature of penis (disorder) |
111337001 | Dyke-Davidoff-Masson syndrome (disorder) |
111338006 | Agenesis of nerve (disorder) |
111339003 | Congenital anomaly of ear with impairment of hearing (disorder) |
111341002 | Cephalodiprosopus (disorder) |
111388003 | Cutis laxa, autosomal dominant (disorder) |
111389006 | Dominant dystrophic epidermolysis bullosa (disorder) |
111396008 | Chédiak-Higashi syndrome (disorder) |
11144004 | Congenital stricture of osseous meatus of middle ear (disorder) |
111501005 | Congenital hereditary muscular dystrophy (disorder) |
111502003 | Fukuyama congenital muscular dystrophy (disorder) |
111503008 | Merosin deficient congenital muscular dystrophy (disorder) |
111504002 | Walker-Warburg congenital muscular dystrophy (disorder) |
111505001 | Muscle-eye-brain disease, congenital muscular dystrophy (disorder) |
111506000 | Distal muscular dystrophy, Miyoshi type (disorder) |
111508004 | Emery-Dreifuss muscular dystrophy (disorder) |
11160000 | Brown oculocutaneous albinism (disorder) |
111631000119106 | Congenital pyelectasia (disorder) |
111641000119102 | Congenital choroid plexus cyst (disorder) |
11194003 | Congenital anomaly of anus (disorder) |
11197005 | Hydromyelia (disorder) |
11211000119108 | Congenital anomaly of pupil (disorder) |
11223009 | Congenital anomaly of pharynx (disorder) |
112751000119103 | Congenital superior sulcus anomaly of orbit (disorder) |
1131009 | Congenital valvular insufficiency (disorder) |
11378000 | Persistent urogenital sinus (disorder) |
1141000119101 | Congenital labial adhesion (disorder) |
11433004 | Congenital coronary artery fistula (disorder) |
1150009 | Congenital microcheilia (disorder) |
11614003 | Congenital stenosis of pulmonary veins (disorder) |
11646003 | Congenital inversion of nipple (disorder) |
11701009 | Hemicephaly (disorder) |
11731003 | Neck webbing (disorder) |
118642009 | Congenital anomaly of the urinary tract proper (disorder) |
12017008 | Congenital absence of ovary (disorder) |
12070002 | Congenital stenosis of larynx (disorder) |
12075007 | Congenital hypoplasia of ascending aorta (disorder) |
12104008 | Congenital rectocloacal fistula (disorder) |
12121000119102 | Congenital trigger finger and trigger thumb (disorder) |
12235781000119107 | Congenital hammer toe of left foot (disorder) |
12235821000119102 | Congenital hammer toe of right foot (disorder) |
12252009 | Congenital absence of sternum (disorder) |
12270007 | Supernumerary roots (disorder) |
12275031000119106 | Congenital cerebral ventriculomegaly (disorder) |
12316007 | Persistent fetal uterus (disorder) |
1232006 | Congenital articular rigidity with myopathy (disorder) |
12322003 | Congenital eventration of left crus of diaphragm (disorder) |
12351004 | Crowding of teeth (disorder) |
123557007 | Congenital anomaly of scapula (disorder) |
123558002 | Congenital anomaly of humerus (disorder) |
123559005 | Congenital anomaly of radius (disorder) |
123560000 | Congenital anomaly of ulna (disorder) |
123561001 | Congenital anomaly of femur (disorder) |
123562008 | Congenital anomaly of fibula (disorder) |
123563003 | Congenital anomaly of tibia (disorder) |
123566006 | Congenital anomaly of calcaneus (disorder) |
123568007 | Congenital anomaly of tarsal bone (disorder) |
123569004 | Congenital anomaly of metatarsal bone (disorder) |
123570003 | Congenital anomaly of carpal bone (disorder) |
123571004 | Congenital anomaly of metacarpal bone (disorder) |
123572006 | Congenital anomaly of rib (disorder) |
123654008 | Congenital anomaly of lower respiratory system (disorder) |
123655009 | Accessory structure of lower respiratory tract (disorder) |
123656005 | Congenital atresia of cardiac valve (disorder) |
123658006 | Congenital cleft of cardiac valve (disorder) |
123660008 | Dextrorotation of heart (disorder) |
123661007 | Levoatrial cardinal vein (disorder) |
123662000 | Persistent dorsal mesentery (disorder) |
123666002 | Rudimentary uterus in male (disorder) |
1239002 | Congenital anteversion of femur (disorder) |
124214007 | Deficiency of steroid 11-beta-monooxygenase (disorder) |
124220008 | Deficiency of steroid 17-alpha-monooxygenase (disorder) |
12458006 | Congenital macrognathism (disorder) |
125963005 | Patent ductus arteriosus with left-to-right shunt (disorder) |
125964004 | Patent ductus arteriosus with right-to-left shunt (disorder) |
12674005 | Multiple malformation syndrome with senile-like appearance (disorder) |
126762003 | Talocalcaneal coalition (disorder) |
126763008 | Congenital anomaly of perineum (disorder) |
126764002 | Congenital anomaly of intestinal tract (disorder) |
1271009 | Knuckle pads, deafness AND leukonychia syndrome (disorder) |
12721007 | Trifid tongue (disorder) |
127328006 | Congenital absence of skeletal bone (disorder) |
127329003 | Congenital anomaly of visual system (disorder) |
127551000119100 | Congenital hypoplasia of brain (disorder) |
12770006 | Cyanotic congenital heart disease (disorder) |
127701000119109 | Congenital positive ulnar variant of wrist (disorder) |
128062001 | Congenital portal-systemic shunt (disorder) |
128063006 | Congenital extrahepatic portal-systemic shunt (disorder) |
128064000 | Congenital absence of portal vein (disorder) |
128065004 | Congenital partial portal-systemic shunt (disorder) |
128066003 | Congenital splenorenal shunt (disorder) |
128067007 | Congenital intrahepatic portal-systemic shunt (disorder) |
128082002 | Duane's syndrome, type 1 (disorder) |
128083007 | Duane's syndrome, type 2 (disorder) |
128084001 | Duane's syndrome, type 3 (disorder) |
128124001 | Congenital anomaly of central nervous system (disorder) |
128219005 | Dysostosis of bone of skull (disorder) |
128223002 | Congenital anomaly of maxilla (disorder) |
128224008 | Congenital anomaly of mandible (disorder) |
128274005 | Congenital anomaly of nose (disorder) |
128275006 | Congenital anomaly of nasal sinuses (disorder) |
128327004 | Congenital anomaly of ocular adnexa (disorder) |
128332003 | Congenital anomaly of digestive organ (disorder) |
128334002 | Congenital anomaly of mouth (disorder) |
128335001 | Congenital anomaly of duodenum (disorder) |
128336000 | Congenital anomaly of palate (disorder) |
128346003 | Congenital anomaly of peritoneum (disorder) |
128347007 | Congenital anomaly of gastrointestinal tract (disorder) |
128352002 | Congenital anomaly of cornea (disorder) |
128353007 | Congenital anomaly of lens (disorder) |
128533009 | Micropapilla (disorder) |
128534003 | Congenital anomaly of posterior segment of eye (disorder) |
128544001 | Congenital anomaly of talus (disorder) |
128555001 | Congenital coronary artery fistula to left atrium (disorder) |
128556000 | Congenital coronary artery fistula to left ventricle (disorder) |
128557009 | Congenital coronary artery fistula to right atrium (disorder) |
128558004 | Congenital coronary artery fistula to right ventricle (disorder) |
128563000 | Juxtaposed atrial appendage (disorder) |
128566008 | Congenital pulmonary vein confluence (disorder) |
128567004 | Congenital pulmonary venous atrium (disorder) |
128568009 | Congenital systemic venous atrium (disorder) |
128584005 | Congenital pulmonary artery conduit (disorder) |
1287007 | Congenital absence of bile duct (disorder) |
12897005 | Congenital stricture of ureteropelvic junction (disorder) |
128985003 | Congenital anomaly of iris (disorder) |
129582000 | Congenital coronary artery fistula to pulmonary artery (disorder) |
129621001 | Nemaline myopathy, early onset type (disorder) |
129622008 | Nemaline myopathy, late onset type (disorder) |
13059002 | Congenital ichthyosis of skin (disorder) |
13213009 | Congenital heart disease (disorder) |
13262009 | Synechia vulvae (disorder) |
13280000 | Femoral hypoplasia - unusual facies syndrome (disorder) |
13282008 | Congenital corneal opacity interfering with vision (disorder) |
13401001 | Ablepharon (disorder) |
134219008 | Os trigonum (disorder) |
13449007 | Melnick-Needles syndrome (disorder) |
13453009 | Anomalous muscle bands of left ventricle (disorder) |
13499006 | Congenital anomaly of lacrimal system (disorder) |
13530005 | Congenital lobulation of kidney (disorder) |
13568007 | Congenital duplication of stomach (disorder) |
13624003 | Congenital cleft hand (disorder) |
13630003 | Congenital absence of lobe of liver (disorder) |
13671009 | Congenital stricture of urethra (disorder) |
13689005 | Congenital anomaly of aortic valve (disorder) |
1372004 | Uterus unicornis (disorder) |
13806003 | Congenital anomaly of urethra (disorder) |
13867009 | Preductal coarctation of aorta (disorder) |
1393001 | Lenz-Majewski hyperostosis syndrome (disorder) |
14061004 | Derencephalus (disorder) |
14178006 | Double renal pelvis (disorder) |
1418007 | Hypoplastic chondrodystrophy (disorder) |
142191000119104 | Congenital transverse septate vagina (disorder) |
142201000119101 | Congenital longitudinal septate vagina (disorder) |
14365001 | Congenital prolapse of bladder (disorder) |
14430002 | Congenital stenosis of small intestine (disorder) |
14447001 | Dandy-Walker syndrome (disorder) |
14482000 | Anomalous origin of right subclavian artery (disorder) |
14532008 | Congenital anomaly of trachea (disorder) |
14552009 | Vestigial remnants of canal of Cloquet (disorder) |
14582003 | Microstomia (disorder) |
14689000 | Uterus cordiformis (disorder) |
14870002 | Achondrogenesis, type IB (disorder) |
14886009 | Abdominal heart (disorder) |
1492007 | Congenital anomaly of large intestine (disorder) |
14921002 | Aarskog syndrome (disorder) |
15069006 | Russell-Silver syndrome (disorder) |
15080006 | Myotubular myopathy with type I atrophy (disorder) |
15096009 | Congenital insufficiency of pulmonary valve (disorder) |
1512006 | Congenital stricture of bile duct (disorder) |
15135007 | Congenital transposition of stomach (disorder) |
15182000 | Coffin-Lowry syndrome (disorder) |
1519002 | Congenital phlebectasia (disorder) |
15191001 | Origin of innominate artery from left side of aortic arch (disorder) |
1538006 | Central nervous system malformation in fetus affecting obstetrical care (disorder) |
15419008 | Congenital pyloric membrane (disorder) |
1542009 | Omphalocele with obstruction (disorder) |
15453007 | Congenital dislocation of knee with genu recurvatum (disorder) |
15459006 | Endocardial cushion defect (disorder) |
15545001 | Congenital duplication of uterus (disorder) |
15552004 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) |
15557005 | First arch syndrome (disorder) |
15582005 | Congenital absence of lobe of lung (disorder) |
15665001000119108 | Congenital anomaly of right sternocleidomastoid muscle (disorder) |
15665081000119100 | Epiblepharon of bilateral eyes (disorder) |
15665121000119103 | Epiblepharon of right eye (disorder) |
15665161000119108 | Epiblepharon of left eye (disorder) |
15665521000119105 | Congenital bilateral optic nerve pits (disorder) |
15665561000119100 | Anophthalmos of left eye (disorder) |
15665681000119108 | Congenital coloboma of iris of right eye (disorder) |
15665721000119102 | Congenital coloboma of bilateral irides (disorder) |
15665761000119107 | Congenital coloboma of iris of left eye (disorder) |
15665961000119105 | Tarsal coalition of right foot (disorder) |
15666001000119102 | Tarsal coalition of left foot (disorder) |
15666041000119100 | Accessory left rib (disorder) |
15666121000119107 | Polydactyly of toes of right foot (disorder) |
15666161000119102 | Polydactyly of toes of left foot (disorder) |
15666281000119104 | Accessory thumb of left hand (disorder) |
15666361000119104 | Polydactyly of fingers of right hand (disorder) |
15666401000119108 | Polydactyly of fingers of bilateral hands (disorder) |
15666441000119105 | Polydactyly of fingers of left hand (disorder) |
15666641000119107 | Accessory tarsal bone of right foot (disorder) |
15666841000119108 | Congenital dysplasia of left hip (disorder) |
15666881000119103 | Congenital dysplasia of right hip (disorder) |
15667081000119108 | Radioulnar synostosis of left arm (disorder) |
15667121000119105 | Radioulnar synostosis of right arm (disorder) |
15667201000119105 | Metatarsus primus varus of right foot (disorder) |
15667281000119102 | Metatarsus primus varus of left foot (disorder) |
15667521000119103 | Congenital bowing of right tibia and fibula (disorder) |
15667561000119108 | Congenital bowing of left tibia and fibula (disorder) |
15667761000119101 | Congenital coxa vara of the left hip (disorder) |
15667801000119109 | Congenital coxa vara of the right hip (disorder) |
15667881000119101 | Congenital deformity of right hip joint (disorder) |
15667921000119108 | Congenital deformity of left hip joint (disorder) |
15667961000119103 | Congenital talipes equinovarus of bilateral feet (disorder) |
15668001000119101 | Congenital talipes equinovarus of left foot (disorder) |
15668041000119104 | Talipes calcaneovarus of right foot (disorder) |
15668081000119109 | Talipes calcaneovarus of left foot (disorder) |
15668161000119101 | Congenital metatarsus adductus of bilateral feet (disorder) |
15668201000119106 | Talipes varus of left foot (disorder) |
15668241000119108 | Talipes varus of right foot (disorder) |
15668441000119109 | Talipes calcaneovalgus of right foot (disorder) |
15668481000119104 | Talipes calcaneovalgus of left foot (disorder) |
15668561000119109 | Talipes valgus of left foot (disorder) |
15668601000119109 | Talipes valgus of right foot (disorder) |
15668681000119101 | Congenital talipes equinovarus of right foot (disorder) |
15668801000119105 | Congenital deformity of right hand (disorder) |
15668921000119109 | Congenital deformity of left hand (disorder) |
15668961000119104 | Congenital deformity of left knee joint (disorder) |
15669121000119101 | Transverse deficiency of right upper limb (disorder) |
15669161000119106 | Transverse deficiency of left upper limb (disorder) |
15669441000119103 | Congenital absence of entire right hand (disorder) |
15669521000119108 | Congenital absence of left upper limb (disorder) |
15669561000119103 | Congenital absence of right upper limb (disorder) |
15669761000119105 | Talipes of right foot (disorder) |
15669801000119102 | Talipes of left foot (disorder) |
15669961000119108 | Congenital dislocation of head of left radius (disorder) |
15670001000119108 | Congenital dislocation of head of right radius (disorder) |
15670161000119108 | Congenital elevation of left scapula (disorder) |
15670241000119101 | Congenital elevation of right scapula (disorder) |
15670521000119105 | Congenital genu valgum of left knee (disorder) |
15670561000119100 | Congenital genu valgum of right knee (disorder) |
15670601000119100 | Congenital genu valgum of bilateral knees (disorder) |
15670641000119103 | Congenital dislocation of right patella (disorder) |
15670681000119108 | Congenital dislocation of left patella (disorder) |
15670801000119104 | Congenital dislocation of left knee (disorder) |
15670881000119107 | Congenital genu varum of bilateral knees (disorder) |
15671007 | Encephalocele of orbit (disorder) |
15671041000119100 | Congenital genu recurvatum of left knee (disorder) |
15671121000119107 | Congenital genu recurvatum of right knee (disorder) |
15671201000119107 | Congenital exotropia of right eye (disorder) |
15671241000119109 | Congenital exotropia of left eye (disorder) |
15671681000119102 | Macrodactyly of toe of right foot (disorder) |
15671721000119108 | Macrodactyly of toe of left foot (disorder) |
15671761000119103 | Congenital hallux valgus of bilateral great toes (disorder) |
15671801000119106 | Congenital clinodactyly of little finger of bilateral hands (disorder) |
15671841000119108 | Congenital clinodactyly of little finger of left hand (disorder) |
15671881000119103 | Congenital clinodactyly of little finger of right hand (disorder) |
15671921000119105 | Camptodactyly of bilateral hands (disorder) |
15671961000119100 | Camptodactyly of left hand (disorder) |
15672001000119109 | Camptodactyly of right hand (disorder) |
15715321000119108 | Congenital bilateral internal tibial torsion (finding) |
15715361000119103 | Congenital internal torsion of tibia of right lower limb (disorder) |
15715401000119107 | Congenital internal torsion of tibia of left lower limb (disorder) |
15788006 | Congenital cleft thyroid cartilage (disorder) |
15796001 | Maxillary prognathism (disorder) |
15843004 | Congenital absence of vertebra (disorder) |
15864131000119107 | Congenital anomaly of left ear (disorder) |
15864171000119105 | Congenital anomaly of right ear (disorder) |
15864291000119103 | Congenital atresia of right external ear (disorder) |
15890002 | Albinism (disorder) |
15969009 | Desmiognathus (disorder) |
16026008 | Congenital cerebellar hypoplasia (disorder) |
16095003 | Heterodymus (disorder) |
16297002 | Congenital hydronephrosis (disorder) |
16376000 | Congenital duodenal stenosis (disorder) |
164453002 | On examination - hands - arachnodactyly (disorder) |
16507009 | Ectopic kidney (disorder) |
16512005 | Congenital absence of membranous labyrinth (disorder) |
165185004 | Dermatoglyphs - skin lines (disorder) |
16567006 | Mesocardia (disorder) |
16585004 | Congenital spade-like hand (disorder) |
16603000 | Talipomanus (disorder) |
16856000 | Longitudinal deficiency of humerus (disorder) |
16904009 | Incomplete congenital absence of thigh AND leg (disorder) |
1694004 | Accessory lobe of lung (disorder) |
16958000 | Complete congenital absence of teeth (disorder) |
17024001 | Aortopulmonary window (disorder) |
17025000 | Ehlers-Danlos syndrome, type 4 (disorder) |
17128000 | Congenital eventration of diaphragm (disorder) |
17142008 | Congenital absence of uterus (disorder) |
17144009 | Fibrochondrogenesis (disorder) |
17170005 | Pili torti (disorder) |
17190001 | Congenital diaphragmatic hernia (disorder) |
172069000 | Congenital meningocele (disorder) |
17268007 | Congenital clinodactyly (disorder) |
17337006 | Double artery (disorder) |
17394001 | Ebstein's anomaly with atrial septal defect (disorder) |
17422006 | Ectopic thymic tissue (disorder) |
1744008 | Fusion of teeth (disorder) |
17471001 | Polyorchism (disorder) |
17480001 | Atresia of pupil (disorder) |
17484005 | Sacralization of lumbar vertebra (disorder) |
17527002 | Overriding skull bones (disorder) |
17568006 | Sclerosteosis (disorder) |
17601009 | Congenital subluxation of carpus (disorder) |
17604001 | Bilateral right-sidedness sequence (disorder) |
17608003 | Child syndrome (disorder) |
1769008 | Thoracodidymus (disorder) |
17718000 | Ostium primum defect (disorder) |
1779005 | Mohr syndrome (disorder) |
17808001 | Azygos lobe of lung (disorder) |
17818006 | Leri-Weill dyschondrosteosis (disorder) |
17827007 | Cross syndrome (disorder) |
18077009 | Trichorhinophalangeal syndrome (disorder) |
18132009 | Congenital deformity of sacroiliac joint (disorder) |
18166000 | Accessory breast (disorder) |
18241005 | Early urethral obstruction sequence (disorder) |
18355000 | Diastematocrania (disorder) |
18417009 | Oligomeganephronic hypoplasia of kidney (disorder) |
1856001 | Accessory nose (disorder) |
18620009 | Congenital sequestration of lung (disorder) |
18735004 | Congenital omphalocele (disorder) |
18749008 | Congenital koilonychia (disorder) |
18756002 | Juvenile GM1 gangliosidosis (disorder) |
18792003 | H-type congenital tracheoesophageal fistula (disorder) |
18820007 | Preauricular cyst (disorder) |
18821006 | Dysplasia of eye (disorder) |
18822004 | Centrofacial lentiginosis syndrome (disorder) |
18899000 | Schinzel-Giedion syndrome (disorder) |
18910001 | Cleft uvula (disorder) |
1896004 | Ectopic breast tissue (disorder) |
18978002 | Ovotestis (disorder) |
19042000 | Congenital prolapse of urethra (disorder) |
19092004 | Holt-Oram syndrome (disorder) |
190995003 | Thymic aplasia or dysplasia with immunodeficiency (disorder) |
19109004 | Syringomyelobulbia (disorder) |
191329002 | Hereditary vascular fragility (disorder) |
19133005 | Neurofibromatosis syndrome (disorder) |
19179000 | Ischiopagus (disorder) |
1922008 | Congenital absence of urethra (disorder) |
19249002 | Premature closure of foramen ovale (disorder) |
1926006 | Osteopetrosis (disorder) |
19276002 | Congenital cerebral cyst (disorder) |
192894009 | Syringomyelia and syringobulbia (disorder) |
193230001 | Distal muscular dystrophy with juvenile onset (disorder) |
19387007 | Ectopic pancreas (disorder) |
19410003 | Macrocephaly (disorder) |
19416009 | Congenital anomaly of eye (disorder) |
19441002 | Occipital dysplasia (disorder) |
19523008 | Hypertaurodontism (disorder) |
1953005 | Congenital deficiency of pigment of skin (disorder) |
1955003 | Preauricular dimple (disorder) |
196286005 | Dentinogenesis imperfecta (disorder) |
196287001 | Odontogenesis imperfecta (disorder) |
196406005 | Anterior imbrication of teeth (disorder) |
196407001 | Posterior imbrication of teeth (disorder) |
1967001 | Longitudinal absence of radius AND ulna (disorder) |
196856007 | Omphalocele with gangrene (disorder) |
196864001 | Omphalocele - irreducible (disorder) |
19886006 | Sturge-Weber syndrome (disorder) |
199879009 | Congenital anomaly of skin (disorder) |
200021000119109 | Dysraphism of cervical spine (disorder) |
201056005 | Keratoderma plantare sulcata (disorder) |
20110000 | Porokeratosis of Mibelli, plaque type (disorder) |
20136007 | Accessory carpal bones (disorder) |
201698009 | Hexadactyly (disorder) |
20392000 | Congenital entropion (disorder) |
203923004 | Acrania (disorder) |
203927003 | Iniencephaly - closed (disorder) |
203928008 | Iniencephaly - open (disorder) |
203934001 | Cervical spina bifida with hydrocephalus (disorder) |
203935000 | Thoracic spina bifida with hydrocephalus (disorder) |
203936004 | Lumbar spina bifida with hydrocephalus (disorder) |
203941007 | Cervical spina bifida with hydrocephalus - open (disorder) |
203942000 | Thoracic spina bifida with hydrocephalus - open (disorder) |
203943005 | Lumbar spina bifida with hydrocephalus - open (disorder) |
203944004 | Sacral spina bifida with hydrocephalus - open (disorder) |
203946002 | Spina bifida with hydrocephalus - closed (disorder) |
203948001 | Cervical spina bifida with hydrocephalus - closed (disorder) |
203949009 | Thoracic spina bifida with hydrocephalus - closed (disorder) |
203950009 | Lumbar spina bifida with hydrocephalus - closed (disorder) |
203951008 | Sacral spina bifida with hydrocephalus - closed (disorder) |
203954000 | Spina bifida with hydrocephalus of late onset (disorder) |
203955004 | Spina bifida with stenosis of aqueduct of Sylvius (disorder) |
203957007 | Dandy-Walker syndrome with spina bifida (disorder) |
203969004 | Cervical spinal hydromeningocele (disorder) |
203980004 | Cervical spinal meningocele (disorder) |
203981000 | Thoracic spinal meningocele (disorder) |
203982007 | Lumbar spinal meningocele (disorder) |
203994003 | Myelocystocele (disorder) |
203996001 | Cervical myelocystocele (disorder) |
203997005 | Thoracic myelocystocele (disorder) |
203998000 | Lumbar myelocystocele (disorder) |
204003007 | Cervical spina bifida without hydrocephalus - open (disorder) |
204004001 | Thoracic spina bifida without hydrocephalus - open (disorder) |
204005000 | Lumbar spina bifida without hydrocephalus - open (disorder) |
204006004 | Sacral spina bifida without hydrocephalus - open (disorder) |
204008003 | Spina bifida without hydrocephalus - closed (disorder) |
204010001 | Cervical spina bifida without hydrocephalus - closed (disorder) |
204011002 | Thoracic spina bifida without hydrocephalus - closed (disorder) |
204012009 | Lumbar spina bifida without hydrocephalus - closed (disorder) |
204013004 | Sacral spina bifida without hydrocephalus - closed (disorder) |
204021005 | Encephalomyelocele (disorder) |
204022003 | Hydromeningocele - cranial (disorder) |
204036008 | Lissencephaly (disorder) |
204040004 | Agenesis of cerebrum (disorder) |
204042007 | Congenital malformation of corpus callosum (disorder) |
204043002 | Hypoplasia of corpus callosum (disorder) |
204046005 | Anomalies of hypothalamus (disorder) |
204047001 | Anomalies of cerebellum (disorder) |
204049003 | Aplasia of cerebellum (disorder) |
204052006 | Cebocephaly (disorder) |
204061006 | Foramen of Magendie atresia (disorder) |
204062004 | Foramen of Luschka atresia (disorder) |
204067005 | Single congenital cerebral cyst (disorder) |
204068000 | Multiple congenital cerebral cysts (disorder) |
204072001 | Congenital adhesions of cerebral meninges (disorder) |
204074000 | Multiple brain anomalies (disorder) |
204081007 | Spinal cord hypoplasia (disorder) |
204102004 | Cryptophthalmos syndrome (disorder) |
204108000 | Simple microphthalmos (disorder) |
204118005 | Congenital keratoglobus (disorder) |
204127006 | Cortical and zonular cataract (disorder) |
204128001 | Congenital lamellar cataract (disorder) |
204134008 | Coloboma of lens (disorder) |
204138006 | Congenital blue dot cataract (disorder) |
204139003 | Congenital membranous cataract (disorder) |
204143004 | Corneal size and shape anomalies (disorder) |
204145006 | Cornea plana (disorder) |
204148008 | Congenital corneal opacity with visual deficit (disorder) |
204149000 | Congenital corneal opacity without visual deficit (disorder) |
204152008 | Axenfeld anomaly (disorder) |
204153003 | Irido-corneo-trabecular dysgenesis (disorder) |
204154009 | Irido-trabecular dysgenesis (disorder) |
204159004 | Polycoria (disorder) |
204164000 | Blue sclera (disorder) |
204166003 | Multiple anterior segment anomalies (disorder) |
204171005 | Congenital vitreous opacity (disorder) |
204175001 | Congenital fold and cyst of posterior segment of eye (disorder) |
204179007 | Congenital macular changes (disorder) |
204181009 | Congenital retinal fold (disorder) |
204189006 | Congenital stricture of retinal artery (disorder) |
204192005 | Coloboma of choroid (disorder) |
204196008 | Congenital anomalies of eyelid, lacrimal system and orbit (disorder) |
204203001 | Hypoplasia of eyelid (disorder) |
204208005 | Agenesis of punctum lacrimale (disorder) |
204216001 | Accessory eye muscles (disorder) |
204217005 | Hypoplasia of eye muscle (disorder) |
204223000 | Ear, face and neck congenital anomalies (disorder) |
204245004 | Accessory tragus (disorder) |
204250005 | Congenital abnormality of Eustachian tube (disorder) |
204256004 | Congenital pointed ear (disorder) |
204257008 | Congenital prominent auricle (disorder) |
204258003 | Congenital ridge ear (disorder) |
204266007 | Branchial cleft external sinus (disorder) |
204267003 | Branchial cleft internal sinus (disorder) |
204272007 | Preauricular fistula (disorder) |
204285005 | Congenital absence of chin (disorder) |
204296002 | Discordant ventriculoarterial connection (disorder) |
204299009 | Dextrotransposition of aorta (disorder) |
204300001 | Incomplete great vessel transposition (disorder) |
204306007 | Pentalogy of Fallot (disorder) |
204311009 | Eisenmenger's complex (disorder) |
204312002 | Ventricular septal defect between left ventricle and right atrium (disorder) |
204318003 | Persistent ostium secundum (disorder) |
204319006 | Lutembacher's syndrome (disorder) |
204330009 | Common atrioventricular-type ventricular septal defect (disorder) |
204339005 | Congenital pulmonary valve abnormality (disorder) |
204342004 | Congenital atresia of the pulmonary valve (disorder) |
204345002 | Congenital fusion of pulmonic cusps (disorder) |
204346001 | Congenital fusion of pulmonary valve segment (disorder) |
204351007 | Fallot's trilogy (disorder) |
204352000 | Supernumerary pulmonary valve cusps (disorder) |
204354004 | Congenital tricuspid atresia and stenosis (disorder) |
204357006 | Ebstein's anomaly of tricuspid valve (disorder) |
204362007 | Parachute malformation of mitral valve (disorder) |
204363002 | Supernumerary cusps of the mitral valve (disorder) |
204370002 | Stenosis of infundibulum of right ventricle (disorder) |
204378009 | Congenital coronary aneurysm (disorder) |
204379001 | Congenital stricture of coronary artery (disorder) |
204394002 | Congenital anomaly of myocardium (disorder) |
204395001 | Congenital aneurysm of heart (disorder) |
204397009 | Cor triloculare (disorder) |
204398004 | Congenital epicardial cyst (disorder) |
204399007 | Hemicardia (disorder) |
204423002 | Anomalous origin of the aortic arch (disorder) |
204427001 | Persistent aortic arch convolutions (disorder) |
204431007 | Atresia and stenosis of aorta (disorder) |
204433005 | Aplasia of aorta (disorder) |
204448004 | Atresia of pulmonary artery with septal defect (disorder) |
204451006 | Anomalies of great veins (disorder) |
204456001 | Subdiaphragmatic total anomalous pulmonary venous return (disorder) |
204457005 | Supradiaphragmatic total anomalous pulmonary venous return (disorder) |
204460003 | Anomalous portal vein termination (disorder) |
204467000 | Pulmonary vein atresia (disorder) |
204470001 | Single umbilical artery (disorder) |
204493007 | Arteriovenous malformation of precerebral vessels (disorder) |
204501003 | Congenital stricture of cerebral artery (disorder) |
204508009 | Choanal atresia (disorder) |
204511005 | Atresia of the anterior nares (disorder) |
204512003 | Atresia of the posterior nares (disorder) |
204519007 | Underdevelopment of nose (disorder) |
204521002 | Congenital cleft nose (disorder) |
204524005 | Congenital perforation of the nasal sinus wall (disorder) |
204526007 | Congenital fissure of nose (disorder) |
204529000 | Congenital glottic web of larynx (disorder) |
204530005 | Congenital subglottic web of larynx (disorder) |
204533007 | Agenesis of larynx, trachea and bronchus (disorder) |
204535000 | Agenesis of larynx (disorder) |
204544004 | Atresia of larynx and trachea (disorder) |
204550009 | Congenital stenosis of larynx, trachea and bronchus (disorder) |
204551008 | Congenital bronchial stenosis (disorder) |
204552001 | Congenital subglottic stenosis (disorder) |
204553006 | Congenital supraglottic stenosis (disorder) |
204557007 | Congenital fissure of epiglottis (disorder) |
204558002 | Congenital cleft of posterior cricoid cartilage (disorder) |
204575008 | Congenital absence of lung fissures (disorder) |
204578005 | Fusion of lobes of lung (disorder) |
204608004 | Central cleft lip (disorder) |
204614006 | Bilateral complete cleft palate with cleft lip (disorder) |
204615007 | Bilateral incomplete cleft palate with cleft lip (disorder) |
204616008 | Central complete cleft palate with cleft lip (disorder) |
204617004 | Central incomplete cleft palate with cleft lip (disorder) |
204620007 | Cleft hard palate with cleft lip, bilateral (disorder) |
204630003 | Cleft tongue (disorder) |
204635008 | Congenital salivary gland fistula (disorder) |
204642008 | Congenital pharyngeal polyp (disorder) |
204644009 | Congenital ranula (disorder) |
204647002 | Congenital ectropion of lip (disorder) |
204652007 | Congenital esophageal fistula (disorder) |
204658006 | Congenital absence of esophagus with tracheoesophageal fistula (disorder) |
204659003 | Esophageal atresia with tracheoesophageal fistula (disorder) |
204667006 | Congenital esophageal pouch (disorder) |
204671009 | Congenital pyloric stenosis (disorder) |
204676004 | Ectopic gastric mucosa (disorder) |
204687007 | Displaced Meckel's diverticulum (disorder) |
204691002 | Small intestine atresia and stenosis (disorder) |
204695006 | Congenital absence of duodenum (disorder) |
204696007 | Congenital absence of jejunum (disorder) |
204697003 | Congenital absence of ileum (disorder) |
204699000 | Congenital jejunal stenosis (disorder) |
204700004 | Congenital ileal stenosis (disorder) |
204702007 | Imperforate jejunum (disorder) |
204708006 | Congenital absence of anus with fistula (disorder) |
204709003 | Congenital absence of rectum with fistula (disorder) |
204711007 | Atresia of large intestine (disorder) |
204712000 | Anal atresia (disorder) |
204715003 | Congenital atresia of appendix (disorder) |
204716002 | Atresia of anus with fistula (disorder) |
204717006 | Atresia of rectum with fistula (disorder) |
204723001 | Congenital stricture of anus (disorder) |
204724007 | Congenital stricture of anus with fistula (disorder) |
204728005 | Congenital stricture of rectum with fistula (disorder) |
204731006 | Imperforate anus (disorder) |
204736001 | Imperforate large intestine (disorder) |
204739008 | Hirschsprung's disease (disorder) |
204740005 | Long segment Hirschsprung's disease (disorder) |
204741009 | Short segment Hirschsprung's disease (disorder) |
204745000 | Total intestinal aganglionosis (disorder) |
204748003 | Congenital intestinal adhesions (disorder) |
204750006 | Malrotation of colon and cecum (disorder) |
204762005 | Transposition of cecum (disorder) |
204769001 | Congenital fecal fistula (disorder) |
204781002 | Congenital absence of hepatic ducts (disorder) |
204782009 | Atresia of hepatic ducts (disorder) |
204787003 | Congenital absence of liver and/or gallbladder (disorder) |
204790009 | Liver and/or biliary duplication (disorder) |
204795004 | Congenital floating liver (disorder) |
204797007 | Congenital dilation of bile duct (disorder) |
204798002 | Congenital diverticulum of bile duct (disorder) |
204799005 | Liver hyperplasia (disorder) |
204805004 | Anomalies of pancreas (disorder) |
204821009 | Congenital malformation of genital organs (disorder) |
204826004 | Fallopian tube and broad ligament anomalies (disorder) |
204847000 | Congenital fistulae between uterus and digestive and urinary tracts (disorder) |
204848005 | Congenital uterointestinal fistula (disorder) |
204849002 | Congenital uterovesical fistula (disorder) |
204853000 | Cervical, vaginal and external female genital anomalies (disorder) |
204878001 | Undescended testicle (disorder) |
204886001 | Hypospadias and epispadias (disorder) |
204888000 | Hypospadias, penile (disorder) |
204889008 | Hypospadias, penoscrotal (disorder) |
204890004 | Hypospadias, perineal (disorder) |
204891000 | Hypospadias, balanic (disorder) |
204905003 | Congenital aplasia of round ligament (disorder) |
204907006 | Congenital aplasia of scrotum (disorder) |
204908001 | Aplasia of penis (disorder) |
20491006 | Calcaneonavicular bar (disorder) |
204920009 | Cyst of hydatid of Morgagni (disorder) |
204921008 | Cyst of Wolffian duct (disorder) |
204922001 | Hydatid cyst of Morgagni - male (disorder) |
204923006 | Hydatid cyst of Morgagni - female (disorder) |
204924000 | Wolffian duct cyst - male (disorder) |
204925004 | Wolffian duct cyst - female (disorder) |
204933003 | Hooded penis (disorder) |
204938007 | Renal agenesis and dysgenesis (disorder) |
204942005 | Renal agenesis (disorder) |
204949001 | Renal dysplasia (disorder) |
204950001 | Bilateral renal dysplasia (disorder) |
204967008 | Renal pelvis and ureter obstructive defects (disorder) |
204973009 | Simple ureterocele (disorder) |
204974003 | Impervious ureter (disorder) |
204984002 | Fusion of kidneys (disorder) |
204991004 | Deviation of ureter (disorder) |
204999002 | Atresia of bladder neck (disorder) |
205003000 | Atresia of anterior urethra (disorder) |
205016000 | Malformation of urachus (disorder) |
205023004 | Congenital prolapse of bladder mucosa (disorder) |
205024005 | Congenital hourglass bladder (disorder) |
205026007 | Epispadias, female (disorder) |
205027003 | Hypospadias, female (disorder) |
205043005 | Congenital deformity of spine (disorder) |
205052001 | Congenital subluxation of hip, bilateral (disorder) |
205057007 | Bilateral dysplastic hip (disorder) |
205060000 | Bilateral unstable hip (disorder) |
205063003 | Congenital genu recurvatum (disorder) |
205064009 | Congenital dislocation of knee grade I (disorder) |
205065005 | Congenital dislocation of knee grade II (disorder) |
205066006 | Congenital dislocation of knee grade III (disorder) |
205067002 | Congenital dislocation of patella (disorder) |
205068007 | Congenital bowing of fibula (disorder) |
205073001 | Congenital complex varus foot deformity (disorder) |
205082007 | Congenital vertical talus (disorder) |
205083002 | Congenital talipes calcaneovalgus (disorder) |
205091006 | Congenital pes cavus (disorder) |
205092004 | Congenital claw foot (disorder) |
205093009 | Congenital short Achilles tendon (disorder) |
205097005 | Congenital talipes equinus (disorder) |
20510008 | Torsion of accessory fallopian tube (disorder) |
205101001 | Congenital pectus carinatum (disorder) |
205109004 | Congenital abduction contracture of hip (disorder) |
205111008 | Congenital short quadriceps (disorder) |
205122007 | Radial polydactyly Wassel 1 (disorder) |
205123002 | Radial polydactyly Wassel 2 (disorder) |
205124008 | Radial polydactyly Wassel 3 (disorder) |
205125009 | Radial polydactyly Wassel 4 (disorder) |
205126005 | Radial polydactyly Wassel 5 (disorder) |
205127001 | Radial polydactyly Wassel 6 (disorder) |
205129003 | Radial polydactyly Wassel 7 (disorder) |
205130008 | Central polydactyly of fingers (disorder) |
205131007 | Ulnar polydactyly of fingers (disorder) |
205132000 | Preaxial polydactyly of toe (disorder) |
205133005 | Postaxial polydactyly of toe (disorder) |
205135003 | Radial polydactyly (disorder) |
205139009 | Simple syndactyly of fingers - first web (disorder) |
205140006 | Simple syndactyly of fingers - second to fourth web (disorder) |
205142003 | Osseous syndactyly of fingers - first web (disorder) |
205143008 | Osseous syndactyly of fingers - second to fourth web (disorder) |
205144002 | Simple syndactyly of toes (disorder) |
205145001 | Simple syndactyly of toes, first web space (disorder) |
205146000 | Simple syndactyly lesser toes (disorder) |
205148004 | Osseous syndactyly of toes first web space (disorder) |
205149007 | Osseous syndactyly lesser toes (disorder) |
205161004 | Congenital amputation of upper limb (disorder) |
205163001 | Transverse deficiency of arm, upper arm level - short (disorder) |
205164007 | Transverse deficiency of arm, upper arm level - long (disorder) |
205171002 | Partial radial absence (disorder) |
205174005 | Hypoplastic thumb-Blauth 1 (disorder) |
205175006 | Hypoplastic thumb-Blauth 2 (disorder) |
205176007 | Hypoplastic thumb-Blauth 3 (disorder) |
205177003 | Hypoplastic thumb-Blauth 4 (disorder) |
205178008 | Hypoplastic thumb-Blauth 5 (disorder) |
205183000 | Transverse arrest carpal level (disorder) |
205184006 | Transverse arrest metacarpal first ray (disorder) |
205187004 | Transverse arrest phalangeal level first ray (disorder) |
205188009 | Transverse arrest phalangeal level second ray (disorder) |
205189001 | Transverse arrest phalangeal level third ray (disorder) |
205190005 | Transverse arrest phalangeal level fourth ray (disorder) |
205191009 | Transverse arrest phalangeal level fifth ray (disorder) |
205203006 | Transverse deficiency lower limb - hip level (disorder) |
205204000 | Transverse deficiency lower limb - metatarsal level (disorder) |
205206003 | Transverse deficiency lower limb - through femur (disorder) |
205207007 | Transverse deficiency lower limb - through tibia/fibula (disorder) |
205211001 | Proximal femoral focal deficiency (disorder) |
205212008 | Congenital tibial deficiency type I (disorder) |
205213003 | Congenital tibial deficiency type II (disorder) |
205215005 | Congenital tibial deficiency type III (disorder) |
205216006 | Congenital fibular deficiency type I (disorder) |
205217002 | Congenital fibular deficiency type II (disorder) |
205218007 | Congenital fibular deficiency type III (disorder) |
205219004 | Agenesis of tarsals and metatarsals (disorder) |
205221009 | Agenesis of multiple tarsal bones (disorder) |
205222002 | Agenesis of first metatarsal (disorder) |
205223007 | Agenesis of fifth metatarsal (disorder) |
205225000 | Agenesis of fourth and fifth metatarsals (disorder) |
205227008 | Congenital absence of great toe (disorder) |
205228003 | Congenital absence of fifth toe (disorder) |
205230001 | Congenital absence of fourth and fifth toes (disorder) |
205253000 | Proximal radioulnar synostosis (disorder) |
205254006 | Radioulnar synostosis and dislocation of radial head (disorder) |
205255007 | Distal radioulnar synostosis (disorder) |
205258009 | Acrocephalosyndactyly type I (disorder) |
205260006 | Acrocephalopolysyndactyly (disorder) |
205261005 | Macrodactyly of fingers - simple (disorder) |
205262003 | Macrodactyly of fingers- fatty nerve tumor (disorder) |
205264002 | Cleft hand - first cleft (disorder) |
205265001 | Cleft hand - central (disorder) |
205266000 | Cleft hand with syndactyly (disorder) |
205267009 | Cleft hand with polydactyly (disorder) |
205269007 | Windblown hand (disorder) |
205270008 | Aberrant forearm flexor muscle (disorder) |
205271007 | Aberrant forearm extensor muscle (disorder) |
205273005 | Thumb in palm deformity (disorder) |
205274004 | Congenital trigger thumb (disorder) |
205276002 | Lunate-triquetrum synostosis (disorder) |
205277006 | Capitate-hamate synostosis (disorder) |
205278001 | Scaphoid-lunate synostosis (disorder) |
205280007 | Proximal interphalangeal joint symphalangism (disorder) |
205281006 | Distal interphalangeal joint symphalangism (disorder) |
205284003 | Duplication of whole limb (disorder) |
205285002 | Duplication of humerus (disorder) |
205286001 | Duplication of radius (disorder) |
205288000 | Duplication of whole hand (disorder) |
205291000 | Overgrowth of whole upper limb (disorder) |
205292007 | Overgrowth of partial upper limb (disorder) |
205297001 | Undergrowth of whole hand (disorder) |
205299003 | Constriction ring syndrome of upper limb (disorder) |
205304002 | Constriction ring of upper limb with acrosyndactyly and amputation (disorder) |
205306000 | Congenital complete absence of upper limb (disorder) |
205308004 | Triphalangeal thumb (disorder) |
205311003 | Brachydactyly-all 3 phalanges (disorder) |
205312005 | Brachydactyly-missing phalanx (disorder) |
205313000 | Camptodactyly-little finger (disorder) |
205315007 | Clinodactyly with delta phalanx (disorder) |
205316008 | Clinodactyly, with no delta phalanx (disorder) |
205317004 | Brachymesophalangia (disorder) |
205322004 | Radioulnar dysostosis (disorder) |
205328000 | Congenital humeral varus (disorder) |
205329008 | Humeroradial synostosis (disorder) |
205330003 | Humeroulnar synostosis (disorder) |
205342008 | Macrodactyly of toes - simple (disorder) |
205343003 | Macrodactyly of toes - fatty nerve tumor (disorder) |
205346006 | Brachydactyly of toes (disorder) |
205347002 | Congenital crossed toes (disorder) |
205348007 | Congenital curly toes (disorder) |
205349004 | Brachyphalangia of little toe (disorder) |
205351000 | Perodactylia of great toe (disorder) |
205352007 | Perodactylia of lesser toe (disorder) |
205353002 | Perodactylia of multiple toes (disorder) |
205354008 | Triphalangeal great toe (disorder) |
205358006 | Split foot (disorder) |
205361007 | Naviculocuneiform bar (disorder) |
205362000 | Complex tarsal coalition (disorder) |
205364004 | Failure of soft tissue differentiation of lower limb (disorder) |
205365003 | Aberrant muscle of the lower limb (disorder) |
205366002 | Failure of differentiation of bones of lower limb (disorder) |
205367006 | Congenital synostosis of lower limb bones (disorder) |
205368001 | Duplication of lower limb bone (disorder) |
205369009 | Congenital overgrowth of lower limb (disorder) |
205370005 | Congenital overgrowth of proximal lower limb (disorder) |
205371009 | Congenital overgrowth of distal lower limb (disorder) |
205372002 | Congenital overgrowth of foot (disorder) |
205373007 | Congenital overgrowth of whole lower limb (disorder) |
205378003 | Brachymetapodia of first metatarsal (disorder) |
205379006 | Brachymetapodia of fourth metatarsal (disorder) |
205382001 | Constriction ring syndrome of lower limb (disorder) |
205385004 | Constriction ring of lower limb with lymphedema (disorder) |
205387007 | Constriction ring syndrome of lower limb with amputation (disorder) |
205395006 | Congenital angulation of tibia (disorder) |
205397003 | Congenital varus ankle (disorder) |
205398008 | Congenital valgus ankle (disorder) |
205399000 | Congenital ball and socket ankle (disorder) |
205425003 | Sacral agenesis (disorder) |
205427006 | Cervical hemivertebra- balanced (disorder) |
205428001 | Cervical hemivertebra - unbalanced (disorder) |
205429009 | Thoracic hemivertebra- balanced (disorder) |
205430004 | Thoracic hemivertebra - unbalanced (disorder) |
205431000 | Lumbar hemivertebra - balanced (disorder) |
205432007 | Lumbar hemivertebra - unbalanced (disorder) |
205435009 | Congenital complete fusion of spine (disorder) |
205436005 | Congenital partial fusion of spine - balanced (disorder) |
205437001 | Congenital partial fusion of spine - unbalanced (disorder) |
205438006 | Congenital partial fusion of spine with hemivertebra - balanced (disorder) |
205439003 | Congenital partial fusion of spine with hemivertebra - unbalanced (disorder) |
205456006 | Hypoplasia of spine (disorder) |
205460009 | Accessory rib (disorder) |
205465004 | Chondrodysplasia (disorder) |
205468002 | Hypochondroplasia (disorder) |
205473008 | Mesomelic dysplasia (disorder) |
205480005 | Dysplasia epiphysealis hemimelica (disorder) |
205481009 | Metachondromatosis (disorder) |
205482002 | Lethal retarded ossification syndromes (disorder) |
205483007 | Hypochondrogenesis (disorder) |
205484001 | Short rib polydactyly syndrome (disorder) |
205496008 | Osteogenesis imperfecta type II (disorder) |
205497004 | Osteogenesis imperfecta type IV (disorder) |
205503007 | Osteopetrosis - delayed type (disorder) |
205506004 | Craniodiaphyseal dysplasia (disorder) |
205532005 | Aplasia of muscle (disorder) |
205548006 | Harlequin ichthyosis (disorder) |
205550003 | Lamellar ichthyosis (disorder) |
205557000 | Abnormal palmar creases (disorder) |
205564003 | Congenital pigmentary skin anomalies (disorder) |
205570009 | Brugsch's syndrome (disorder) |
205573006 | Focal dermal hypoplasia (disorder) |
205575004 | Keratoderma areata (disorder) |
205592008 | Congenital localized alopecia (disorder) |
205597002 | Taenzer's hair (disorder) |
205681004 | Gonadal dysgenesis (disorder) |
205683001 | Ovarian dysgenesis (disorder) |
205705003 | Additional sex chromosome (disorder) |
205736006 | Mis-shapen spleen (disorder) |
205744006 | Congenital cyst of adrenal gland (disorder) |
205749001 | Congenital absence of pituitary gland (disorder) |
205750001 | Accessory pituitary gland (disorder) |
205757003 | Aberrant parathyroid gland (disorder) |
205768003 | Complete situs inversus with dextrocardia (disorder) |
205769006 | Situs inversus with levocardia (disorder) |
205771006 | Craniopagus frontalis (disorder) |
205774003 | Craniopagus parasiticus (disorder) |
205797000 | Congenital malformation syndromes affecting facial appearance (disorder) |
205798005 | Cyclopia (disorder) |
205808005 | Congenital malformation syndromes associated with short stature (disorder) |
205812004 | Congenital malformation syndromes involving limbs (disorder) |
205817005 | Aglossia-adactyly syndrome (disorder) |
205819008 | Multiple pterygium syndrome (disorder) |
205821003 | Congenital contractural arachnodactyly (disorder) |
205824006 | Noonan's syndrome (disorder) |
205826008 | Congenital malformation syndromes with metabolic disturbances (disorder) |
205828009 | Biemond's syndrome (disorder) |
205834002 | Acardia (disorder) |
205835001 | Acephalobrachius (disorder) |
205836000 | Acephalogaster (disorder) |
205837009 | Acephalothorax (disorder) |
205838004 | Congenital hemihypertrophy (disorder) |
20766005 | Ehlers-Danlos syndrome, type 2 (disorder) |
208008 | Neurocutaneous melanosis sequence (disorder) |
20815007 | Exstrophy of cloaca sequence (disorder) |
20834007 | Congenital cubitus varus (disorder) |
20919000 | Congenital liver grooves (disorder) |
20944008 | Congenital postural scoliosis (disorder) |
20948006 | Congenital anomaly of finger (disorder) |
2107001 | Anisomelia (disorder) |
21086008 | Cockayne syndrome (disorder) |
21234008 | Congenital stenosis of aorta (disorder) |
21279007 | Lingual thyroid (disorder) |
21321009 | Ambiguous genitalia (disorder) |
21350002 | Colloid cyst of third ventricle (disorder) |
21530000 | Cephalothoracopagus (disorder) |
21565000 | Accessory broad ligament (disorder) |
215677009 | Congenital hypothyroidism with ectopic thyroid (disorder) |
21590003 | Congenital zonular cataract (disorder) |
21634003 | Borjeson-Forssman-Lehmann syndrome (disorder) |
2167004 | Retinal hemangioblastomatosis (disorder) |
217710005 | Congenital iodine deficiency syndrome (disorder) |
21848000 | Angiokeratoma circumscriptum (disorder) |
218728005 | Interrupted aortic arch (disorder) |
21877004 | Osler hemorrhagic telangiectasia syndrome (disorder) |
21893008 | Manus valga (disorder) |
21905007 | Congenital anomaly of middle ear (disorder) |
21926007 | Pili annulati (disorder) |
21981000 | Single coronary artery (disorder) |
21995002 | Natal tooth (disorder) |
21998000 | Robert's pelvis (disorder) |
22006008 | Hypertelorism (disorder) |
22099008 | Congenital valgus deformity of foot (disorder) |
2213002 | Congenital anomaly of vena cava (disorder) |
22133005 | Congenital anomaly of the peripheral nervous system (disorder) |
22138001 | Congenital absence of ear lobe (disorder) |
22199006 | Nail-patella syndrome (disorder) |
22301000119102 | Congenital positional plagiocephaly (disorder) |
223726008 | Pachydermoperiostosis of nail (disorder) |
22421007 | Congenital absence of bladder (disorder) |
22471005 | Hemispheric cerebellar agenesis (disorder) |
22504001 | Uterus bilocularis (disorder) |
22567005 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) |
22589009 | Congenital absence of salivary gland (disorder) |
22660004 | Atretocephalus (disorder) |
22750001 | Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava (disorder) |
22764001 | Metatropic dysplasia (disorder) |
22810007 | Mandibular prognathism (disorder) |
22841008 | Phocomelia (disorder) |
22845004 | Congenital septation of gallbladder (disorder) |
22868008 | Longitudinal deficiency of phalanges of hand (disorder) |
229815001 | Internal malleolar torsion (disorder) |
229816000 | External malleolar torsion (disorder) |
229845003 | Congenital forefoot varus (disorder) |
229846002 | Congenital rearfoot varus (disorder) |
229847006 | Plantarflexed cuboid (disorder) |
23024003 | Macrogyria (disorder) |
230502003 | Congenital anosmia (disorder) |
230504002 | Tilted optic disc (disorder) |
230506000 | Myelinated nerve fibers of optic disc (disorder) |
230529008 | Congenital failure of eye elevation (disorder) |
230530003 | Congenital nuclear ophthalmoplegia (disorder) |
230560008 | Congenital polyneuropathy (disorder) |
230561007 | Congenital neuropathy with arthrogryposis multiplex congenita (disorder) |
230562000 | Congenital hypomyelinating neuropathy (disorder) |
230563005 | Late congenital syphilitic polyneuropathy (disorder) |
23061007 | Congenital anomaly of cricoid cartilage (disorder) |
23063005 | Congenital atresia of mitral valve (disorder) |
230769007 | Periventricular leukomalacia (disorder) |
230794008 | Neuronal choristoma (disorder) |
231250005 | Congenital talipes calcaneus (disorder) |
23150001 | Proteus syndrome (disorder) |
231933003 | Lattice corneal dystrophy, isolated form (disorder) |
232034009 | Central serous retinopathy with pit of optic disc (disorder) |
232059000 | Laurence-Moon syndrome (disorder) |
232074003 | Congenital hypertrophy of retinal pigment epithelium (disorder) |
232112009 | Strabismus fixus (disorder) |
232113004 | Vertical retraction syndrome (disorder) |
232217008 | Congenital deformity of pinna (disorder) |
232262007 | Congenital cholesteatoma (disorder) |
232298004 | Structural anomaly of the cochlea and vestibular labyrinth (disorder) |
232299007 | Aplasia of the cochlea and vestibular labyrinth (disorder) |
232300004 | Congenital deformity of labyrinth (disorder) |
232301000 | Incomplete formation of the bony cochlea (disorder) |
232302007 | Mondini defect (disorder) |
232335002 | Earpit syndrome (disorder) |
232373003 | Choanal atresia with radial ray hypoplasia (disorder) |
232374009 | Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) |
232381002 | Agenesis of nasal cartilages (disorder) |
232384005 | Median nasal dermoid fistula (disorder) |
232412004 | Bifid epiglottis (disorder) |
232461002 | Congenital cleft larynx (disorder) |
23359005 | Multiple malformation syndrome with facial-limb defects as major feature (disorder) |
233627004 | Congenital cystic bronchiectasis (disorder) |
233663004 | Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder) |
233664005 | Immotile cilia syndrome due to defective radial spokes (disorder) |
233666007 | Young's syndrome (disorder) |
233667003 | Rutland ciliary disorientation syndrome (disorder) |
233718008 | Pulmonary tuberous sclerosis (disorder) |
233779005 | Congenital tracheal fistula (disorder) |
23402009 | Congenital stricture of ureterovesical orifice (disorder) |
234095009 | Lymphatic malformation (disorder) |
234118009 | Capillary malformation (disorder) |
234119001 | Arterial malformation (disorder) |
234122004 | Persistence of primitive artery (disorder) |
234123009 | Persistent cerebral embryonic artery (disorder) |
234125002 | Venous valvular anomaly (disorder) |
234126001 | Deep vein aplasia (disorder) |
234127005 | Deep vein hypoplasia (disorder) |
234129008 | True congenital varicose veins (disorder) |
234131004 | Splenoportal vascular anomaly (disorder) |
234132006 | Congenital abnormality of great veins and coronary sinus (disorder) |
234133001 | Capillary-venous malformation (disorder) |
234134007 | Venous-lymphatic malformation (disorder) |
234136009 | Capillary-venous-lymphatic malformation (disorder) |
234138005 | Bannayan syndrome (disorder) |
234139002 | Vascular neurocutaneous syndrome (disorder) |
234141001 | Congenital arteriovenous malformation (disorder) |
234142008 | Cerebral arteriovenous malformation (disorder) |
234143003 | Parkes Weber syndrome (disorder) |
234146006 | Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
234147002 | Arteriovenous angioma (disorder) |
234148007 | Congenital arteriovenous fistula (disorder) |
234149004 | Congenital arteriovenous fistula of brain (disorder) |
234150004 | Congenital arteriovenous fistula occlusion (disorder) |
234151000 | Congenital arteriovenous fistula stenosis (disorder) |
234152007 | Congenital arteriovenous fistula thrombosis (disorder) |
234153002 | Congenital arteriovenous fistula infection (disorder) |
234154008 | Congenital arteriovenous fistula aneurysm (disorder) |
234155009 | Congenital arteriovenous fistula hemorrhage (disorder) |
234156005 | Congenital arteriovenous fistula rupture (disorder) |
234157001 | Arteriovenous-lymphatic malformation (disorder) |
234158006 | Specific mixed vascular syndrome (disorder) |
234159003 | Multiple dysplasia syndrome (disorder) |
234160008 | Weber's true diffuse phlebarteriectasis (disorder) |
234954009 | Supernumerary cusp (disorder) |
234955005 | Talon cusp (disorder) |
234961008 | Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) |
234962001 | Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth (disorder) |
234963006 | Amelogenesis imperfecta - hypoplastic autosomal dominant - rough (disorder) |
234964000 | Amelogenesis imperfecta - recessive - rough (disorder) |
234965004 | Amelogenesis imperfecta - hypomaturation - recessive pigmented (disorder) |
234966003 | Amelogenesis imperfecta - hypomaturation - snow capped teeth (disorder) |
234968002 | Dentinogenesis imperfecta - Shield's type I (disorder) |
234969005 | Dentinogenesis imperfecta - Shield's type II (disorder) |
234970006 | Dentinogenesis imperfecta - Shield's type III (disorder) |
23512004 | Atresia of salivary duct (disorder) |
235143007 | Midline sinus of the upper lip (disorder) |
23544000 | Congenital stenosis of vagina (disorder) |
2355008 | Rud's syndrome (disorder) |
23568008 | Metatarsus adductus (disorder) |
235730004 | Familial absence of villi (disorder) |
235812003 | Malrotation of the intestine type IA (disorder) |
235813008 | Malrotation of the intestine type IIA (disorder) |
235814002 | Malrotation of the intestine type IIB (disorder) |
235815001 | Malrotation of the intestine type IIC (disorder) |
235816000 | Malrotation of the intestine type IIIA (disorder) |
235817009 | Malrotation of the intestine type IIIB (disorder) |
235916001 | Ichthyosis congenita with biliary atresia (disorder) |
235977001 | Congenital malformation of pancreas (disorder) |
236033001 | Congenital umbilical defect (disorder) |
23610003 | Anonychia (disorder) |
236443009 | Medullary sponge kidney (disorder) |
236529001 | Prune belly syndrome with pulmonic stenosis, mental retardation and deafness (disorder) |
236533008 | Ochoa syndrome (disorder) |
236615008 | Primary vesicoureteric reflux (disorder) |
236705005 | Derodidymis (disorder) |
236779000 | Congenital abnormality of scrotum (disorder) |
236780002 | Bifid scrotum (disorder) |
23678004 | Congenital pyloric antral membrane (disorder) |
236796004 | Hypogonadism with prune belly syndrome (disorder) |
237513002 | Congenital anomaly of bone and joint (disorder) |
237515009 | Congenital hypothyroidism without goiter (disorder) |
237516005 | Congenital thyroid hypoplasia (disorder) |
237565000 | Congenital iodine deficiency syndrome - mixed type (disorder) |
237566004 | Congenital iodine deficiency syndrome - neurological type (disorder) |
237749004 | Virilization-adrenogenital syndrome (disorder) |
237750004 | Pseudohermaphrodite, female with adrenocortical disorder (disorder) |
237751000 | Congenital adrenal hyperplasia (disorder) |
237753002 | Salt-losing congenital adrenal hyperplasia (disorder) |
237754008 | Late onset congenital adrenal hyperplasia (disorder) |
237755009 | Congenital adrenal hyperplasia - desmolase deficiency (disorder) |
237764004 | Congenital adrenal hypoplasia, X-linked (disorder) |
237830009 | Ectopic parathyroid hormone-related protein secretion (disorder) |
237888005 | Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder) |
237889002 | Autosomal dominant hypophosphatemic rickets (disorder) |
237890006 | Autosomal dominant hypophosphatemic bone disease (disorder) |
237918004 | Klein-Waardenberg's syndrome (disorder) |
237919007 | Minimal pigment oculocutaneous albinism (disorder) |
237920001 | Temperature-sensitive oculocutaneous albinism (disorder) |
238025006 | GM1 gangliosidosis (disorder) |
238026007 | Infantile GM1 gangliosidosis (disorder) |
238027003 | Adult GM1 gangliosidosis (disorder) |
238047006 | Beta-D-mannosidosis (disorder) |
23817003 | Levy-Hollister syndrome (disorder) |
238626006 | Keratosis pilaris decalvans (disorder) |
238627002 | Follicular ichthyosis (disorder) |
238632001 | Giant porokeratosis (disorder) |
23876003 | Congenital dislocation of shoulder (disorder) |
238763007 | Generalized essential telangiectasia (disorder) |
238798005 | Simple lymphangioma (disorder) |
238799002 | Lymphangioma circumscriptum (disorder) |
238800003 | Diffuse lymphangioma (disorder) |
23880008 | Congenital anomaly of peripheral nerve (disorder) |
238803001 | Oral lymphangioma (disorder) |
238804007 | Systemic lymphangiomatosis (disorder) |
239001006 | Genodermatosis (disorder) |
239006001 | Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) |
239007005 | Hypohidrotic X-linked ectodermal dysplasia (disorder) |
239009008 | Roselli-Gulienetti ectodermal dysplasia (disorder) |
239010003 | Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder) |
239011004 | Basan syndrome (disorder) |
239012006 | Greither type of ectodermal dysplasia (disorder) |
239013001 | Anonychia with bizarre flexural pigmentation (disorder) |
239014007 | Tricho-onychodental dysplasia (disorder) |
239015008 | Ectodermal dysplasia with hair-tooth-nail defects (disorder) |
239018005 | Schoepf-Schulz-Passage syndrome (disorder) |
239019002 | Odonto-onychial dysplasia with alopecia (disorder) |
239020008 | Fried's tooth and nail syndrome (disorder) |
239021007 | Hypodontia and nail dysgenesis (disorder) |
239022000 | Dermodental dysplasia (disorder) |
239023005 | Salamon's syndrome (disorder) |
239024004 | Ectodermal dysplasia, syndactyly and pili torti (disorder) |
239025003 | Dwarfism, alopecia, pseudoanodontia, cutis laxa (disorder) |
239026002 | Hypohidrosis-diabetes insipidus syndrome (disorder) |
239027006 | Ectodermal dysplasia with hair-tooth defects (disorder) |
239028001 | Odontotrichomelic syndrome (disorder) |
239030004 | Orofacial-digital syndrome III (disorder) |
239031000 | Orofacial-digital syndrome IV (disorder) |
239032007 | Berlin syndrome (disorder) |
239035009 | Ectodermal dysplasia with hair-nail defect (disorder) |
239036005 | Tricho-oculodermovertebral syndrome (disorder) |
239037001 | Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) |
239038006 | Kirman syndrome (disorder) |
239040001 | Ectodermal dysplasia with tooth-nail defects (disorder) |
239041002 | Dento-oculocutaneous syndrome (disorder) |
239042009 | Ectodermal dysplasia with tooth-sweating defect (disorder) |
239043004 | Sandman-Andra syndrome (disorder) |
239046007 | Ectodermal dysplasia with nail defect (disorder) |
239048008 | Ectodermal dysplasia with sweating defect (disorder) |
239049000 | Hypohidrosis with neurolabyrinthitis (disorder) |
239050000 | Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections (disorder) |
239053003 | Multiple benign annular creases of extremities (disorder) |
239054009 | Reticulate pigmented anomaly of flexures (disorder) |
239055005 | Hereditary clubbing (disorder) |
239056006 | Flynn-Aird syndrome (disorder) |
239057002 | Cutaneous syndrome with ichthyosis (disorder) |
239059004 | Keratitis ichthyosis and deafness syndrome (disorder) |
239060009 | Atypical ichthyosis vulgaris with hypogonadism (disorder) |
239062001 | Erythrokeratoderma en cocardes (disorder) |
239063006 | Erythrokeratoderma progressiva of Gottron (disorder) |
239064000 | Keratolytic winter erythema (disorder) |
239065004 | Keratolysis exfoliativa (disorder) |
239066003 | Hereditary palmoplantar keratoderma (disorder) |
239067007 | Palmoplantar keratoderma transgrediens (disorder) |
239068002 | Autosomal dominant mutilating keratoderma (disorder) |
239069005 | Acroerythrokeratoderma (disorder) |
239070006 | Progressive palmoplantar keratoderma of Greither (disorder) |
239071005 | Epidermolytic palmoplantar keratoderma of Vorner (disorder) |
239072003 | Congenital palmoplantar and perioral keratoderma of Olmsted (disorder) |
239073008 | Circumscribed palmoplantar keratoderma (disorder) |
239074002 | Keratoderma with pachyonychia congenita (disorder) |
239076000 | Keratoderma with scleroatrophy of the extremities (disorder) |
239078004 | Papuloverrucous palmoplantar keratoderma of Jakac-Wolf (disorder) |
239079007 | Inherited cutaneous hyperpigmentation (disorder) |
239082002 | Dyschromatosis universalis (disorder) |
239084001 | Naegeli-Franceschetti-Jadassohn syndrome (disorder) |
239085000 | Symmetrical dyschromatosis of extremities (disorder) |
239088003 | Dermatopathia pigmentosa reticularis (disorder) |
239089006 | Acromelanosis (disorder) |
2391001 | Achondrogenesis (disorder) |
23914009 | Ectopic splenic tissue (disorder) |
239144007 | Congenital erector pili hamartoma (disorder) |
239145008 | Diffuse smooth muscle hamartoma (disorder) |
239152005 | Congenital absence of skin on scalp (disorder) |
239153000 | Congenital absence of skin on scalp with epidermal nevi (disorder) |
23931000119104 | Hydrocephalus due to Arnold Chiari malformation type 2 (disorder) |
23939000 | Imperfect fusion of skull (disorder) |
23941000119108 | Arnold Chiari type 2 without hydrocephalus (disorder) |
240047005 | X-linked muscular dystrophy with limb girdle distribution (disorder) |
240048000 | X-linked muscular dystrophy with abnormal dystrophin (disorder) |
240049008 | Intermediate X-linked muscular dystrophy (disorder) |
240050008 | Manifesting female carrier of X-linked muscular dystrophy (disorder) |
240051007 | X-linked limb girdle muscular dystrophy with normal dystrophin (disorder) |
240052000 | Ji muscular dystrophy (disorder) |
240053005 | Hereditary myopathy limited to females (disorder) |
240055003 | Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder) |
240058001 | Reunion-Indiana Amish type muscular dystrophy (disorder) |
240060004 | Western type of congenital muscular dystrophy (disorder) |
240061000 | Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder) |
240062007 | Ullrich congenital muscular dystrophy (disorder) |
240063002 | Eichsfeld type congenital muscular dystrophy (disorder) |
240064008 | Hutterite type of muscular dystrophy (disorder) |
240065009 | Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) |
240067001 | Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) |
240068006 | Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder) |
240069003 | Late onset proximal muscular dystrophy with dysarthria (disorder) |
240071003 | X-linked muscular dystrophy not predominantly limb girdle (disorder) |
240072005 | Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) |
240073000 | Autosomal recessive muscular dystrophy not predominantly limb girdle (disorder) |
240074006 | Scapulohumeral muscular dystrophy (disorder) |
240075007 | Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder) |
240076008 | Benign scapuloperoneal muscular dystrophy (disorder) |
240078009 | Benign congenital muscular dystrophy with finger flexion contractures (disorder) |
240080003 | Benign congenital hypotonia (disorder) |
240081004 | Autosomal recessive centronuclear myopathy (disorder) |
240082006 | Myopathy with abnormality of histochemical fiber type (disorder) |
240083001 | Myopathy with type I hypotrophy (disorder) |
240084007 | Congenital myopathy with fiber type disproportion (disorder) |
240085008 | Congenital myopathy with uniform fiber type (disorder) |
240086009 | Myopathy with cytoplasmic inclusions (disorder) |
240087000 | Myopathy with tubular aggregates (disorder) |
240156000 | Juvenile idiopathic generalized osteoporosis (disorder) |
240554006 | Hutchinson's triad (disorder) |
24140005 | Median mandibular cyst (disorder) |
24194000 | Complete bilateral cleft palate (disorder) |
24210004 | Congenital chorioretinal degeneration (disorder) |
24291004 | Congenital dilatation of colon (disorder) |
24297000 | Xiphopagus (disorder) |
24358005 | Accessory thymic tissue (disorder) |
2438005 | Iniencephaly (disorder) |
24533004 | Thoracodelphus (disorder) |
24559001 | Mutilating keratoderma (disorder) |
24606006 | Accessory eyelid (disorder) |
24614000 | Laterality sequence (disorder) |
24629003 | Metaphyseal chondrodysplasia, Jansen type (disorder) |
24679000 | Thoracopagus parasiticus (disorder) |
247127002 | Retinal arteriovenous shunt (disorder) |
247204001 | Morning glory disc (disorder) |
247209006 | Optic disc vascular anomaly (disorder) |
247458008 | Paving stone nevus (disorder) |
247476001 | Raised birthmark (disorder) |
247477005 | Flat birthmark (disorder) |
24750000 | Townes syndrome (disorder) |
24752008 | Infantile cortical hyperostosis (disorder) |
24787008 | Congenital absence of broad ligament (disorder) |
24814002 | Potter's facies (disorder) |
24897005 | Congenital postural lordosis (disorder) |
249491000119100 | Structural developmental anomalies of neurenteric canal (disorder) |
2495006 | Congenital cerebral arteriovenous aneurysm (disorder) |
24963004 | Congenital anomaly of sternocleidomastoid muscle (disorder) |
250591000119109 | Salt-losing congenital adrenal hyperplasia with virilism (disorder) |
250941001 | Right ventricular fibromuscular infundibular stenosis (disorder) |
250942008 | Right ventricular muscular infundibular stenosis (disorder) |
250983006 | Bicuspid doming of aortic cusp (disorder) |
251038002 | Aortic root congenital abnormality (disorder) |
25129008 | Hydromeningocele (disorder) |
25148007 | Congenital absence of uvula (disorder) |
251729009 | Congenital malformation of angle of anterior chamber of eye (disorder) |
251730004 | Goniodysgenesis (disorder) |
251731000 | Barkan membrane (disorder) |
25201000119104 | Transitional lumbosacral vertebra (disorder) |
253098009 | Neural tube defect (disorder) |
253101008 | Congenital cerebral hernia (disorder) |
253103006 | Frontal encephalocele (disorder) |
253104000 | Frontoethmoidal encephalocele (disorder) |
253106003 | Nasofrontal encephalocele (disorder) |
253107007 | Nasopharyngeal encephalocele (disorder) |
253108002 | Temporal encephalocele (disorder) |
253109005 | Parietal encephalocele (disorder) |
253111001 | Thoracolumbar spina bifida without hydrocephalus - closed (disorder) |
253113003 | Rachischisis with hydrocephalus (disorder) |
253114009 | Myelocele with hydrocephalus (disorder) |
253115005 | Hydromyelocele with hydrocephalus (disorder) |
253117002 | Closed spina bifida with Arnold-Chiari malformation (disorder) |
253118007 | Thoracolumbar spina bifida with hydrocephalus - closed (disorder) |
253119004 | Hemimyelocele (disorder) |
253120005 | Lipomeningocele (disorder) |
253124001 | Myelodysplasia of spinal cord (disorder) |
253125000 | Spinal hamartoma (disorder) |
253128003 | Abnormality of neurogenesis (disorder) |
253135006 | Defect of telencephalic division (disorder) |
253136007 | Lobar holoprosencephaly (disorder) |
253137003 | Alobar holoprosencephaly (disorder) |
253138008 | Semi-lobar holoprosencephaly (disorder) |
253139000 | Agenesis of corpus callosum with lipoma (disorder) |
253140003 | Partial agenesis of corpus callosum (disorder) |
253143001 | Absence of septum pellucidum (disorder) |
253145008 | Reduction anomaly of hypothalamus (disorder) |
253146009 | Disorder of neuronal migration and differentiation (disorder) |
253147000 | Type 1 lissencephaly (disorder) |
253148005 | Miller Dieker syndrome (disorder) |
253149002 | Type 2 lissencephaly (disorder) |
253150002 | Neuronal heterotopia (disorder) |
253151003 | Nodular heterotopia (disorder) |
253152005 | Laminar heterotopia (disorder) |
253153000 | Cortical dysplasia (disorder) |
253154006 | Localized cortical dysplasia (disorder) |
253156008 | Cortical dysplasia with hemimegalencephaly (disorder) |
253158009 | Hydranencephaly with proliferative vasculopathy (disorder) |
253159001 | Schizencephaly (disorder) |
253160006 | Colpocephaly (disorder) |
253166000 | Lateral meningocele (disorder) |
253167009 | Microdysgenesis (disorder) |
253168004 | Familial megalencephaly (disorder) |
253169007 | Sporadic megalencephaly (disorder) |
253170008 | Hemimegalencephaly (disorder) |
253171007 | Dysgenesis of the cerebellum (disorder) |
253172000 | Agenesis of cerebellum (disorder) |
253174004 | Aplasia of the vermis (disorder) |
253175003 | Familial aplasia of the vermis (disorder) |
253176002 | Gillespie syndrome (disorder) |
253178001 | Granular cell hypoplasia (disorder) |
253179009 | Cerebellar cortical dysplasia (disorder) |
253180007 | Dysgenesis of the brainstem (disorder) |
253181006 | Olive dysplasia (disorder) |
253182004 | Dentate dysplasia (disorder) |
253183009 | Olivary heterotopia (disorder) |
253184003 | Chiari malformation (disorder) |
253185002 | Chiari malformation type I (disorder) |
253186001 | Chiari malformation type III (disorder) |
253187005 | Chiari malformation type IV (disorder) |
253188000 | Abnormality of canalization and retrogressive differentiation (disorder) |
253189008 | Sacral dysgenesis (disorder) |
253190004 | Lumbosacral agenesis (disorder) |
253192007 | Fibrolipoma of filum terminale (disorder) |
253193002 | Vascular malformation of the nervous system (disorder) |
253195009 | Persistent embryonic trigeminal artery (disorder) |
253196005 | Persistent embryonic otic artery (disorder) |
253197001 | Persistent embryonic hypoglossal artery (disorder) |
253198006 | Persistent embryonic proatlantal intersegmental artery (disorder) |
253199003 | Congenital malformation of the meninges (disorder) |
253203003 | Hypoplasia of brain gyri (disorder) |
253204009 | Congenital malformation of eye, ear and neck (disorder) |
253206006 | Congenital malformation of the eyebrow (disorder) |
253207002 | Synophrys (disorder) |
253208007 | Absent eyebrow (disorder) |
253209004 | Double eyebrow (disorder) |
253212001 | Epiblepharon (disorder) |
253213006 | Congenital ankyloblepharon (disorder) |
253214000 | Congenital distichiasis (disorder) |
253215004 | Alacrima (disorder) |
253217007 | Imperforate lacrimal punctum (disorder) |
253218002 | Supernumerary lacrimal punctum (disorder) |
253219005 | Agenesis of nasolacrimal duct (disorder) |
253220004 | Congenital lacrimal fistula (disorder) |
253221000 | Lenticonus (disorder) |
253223002 | Congenital polar cataract (disorder) |
253224008 | Congenital anterior polar cataract (disorder) |
253225009 | Congenital posterior polar cataract (disorder) |
253226005 | Congenital sutural cataract (disorder) |
253227001 | Rubella cataract (disorder) |
253228006 | Embryotoxon (disorder) |
253229003 | Anterior embryotoxon (disorder) |
253230008 | Congenital anterior staphyloma (disorder) |
253231007 | Aniridia type 1 (disorder) |
253232000 | Aniridia type 2 (disorder) |
253233005 | Pseudo-polycoria (disorder) |
253234004 | Congenital heterochromia iridis (disorder) |
253235003 | Congenital cyst of iris (disorder) |
253236002 | Congenital malformation of vitreous humor (disorder) |
253238001 | Partial hypoplasia of optic disc (disorder) |
253239009 | Sectorial hypoplasia of optic disc (disorder) |
253240006 | Trabecular dysgenesis (disorder) |
253241005 | Orbital dystopia (disorder) |
253242003 | Horizontal orbital dystopia (disorder) |
253243008 | Vertical orbital dystopia (disorder) |
253244002 | Rotational orbital dystopia (disorder) |
253247009 | Congenital stricture of osseous meatus (disorder) |
253251006 | Posteriorly rotated ear (disorder) |
253252004 | Vulcan ear (disorder) |
253253009 | Cat ear (disorder) |
253254003 | Aztec ear (disorder) |
253255002 | Simple ear (disorder) |
253259008 | Sinus of branchial cleft (disorder) |
253264007 | Congenital heart disease, septal and bulbar anomalies (disorder) |
253267000 | Congenital abnormality of relationship of cardiac component (disorder) |
253268005 | Abnormal relationship of right ventricle to left ventricle (disorder) |
253269002 | Criss-cross heart (disorder) |
253270001 | Abnormal relationship of aortic orifice to pulmonary orifice (disorder) |
253271002 | Mirror-imaged heart (disorder) |
253272009 | Congenital abnormality of cardiac connection (disorder) |
253273004 | Cardiac septal defects (disorder) |
253274005 | Abnormal atrioventricular connection (disorder) |
253275006 | Abnormal atrioventricular connection - biventricular (disorder) |
253276007 | Cor triloculare biventriculare (disorder) |
253277003 | Discordant atrioventricular connection (disorder) |
253278008 | Ambiguous atrioventricular connection (disorder) |
253279000 | Absent atrioventricular connection with straddling valve (disorder) |
253280002 | Abnormal atrioventricular connection - univentricular (disorder) |
253281003 | Double inlet ventricle (disorder) |
253282005 | Double inlet right ventricle (disorder) |
253283000 | Double inlet left ventricle (disorder) |
253284006 | Double inlet to ventricle of indeterminate morphology (disorder) |
253285007 | Absent right sided atrioventricular connection (disorder) |
253286008 | Left sided atrium connecting to left ventricle (disorder) |
253287004 | Left sided atrium connecting to right ventricle (disorder) |
253288009 | Left sided atrium connecting to both ventricles (disorder) |
253289001 | Left sided atrium connecting to ventricle of indeterminate morphology (disorder) |
253290005 | Absent left sided atrioventricular connection (disorder) |
253291009 | Right sided atrium connecting to right ventricle (disorder) |
253293007 | Right sided atrium connecting to both ventricles (disorder) |
253294001 | Right sided atrium connecting to ventricle of indeterminate morphology (disorder) |
253295000 | Abnormal ventriculoarterial connection (disorder) |
253297008 | Transposition of aorta (disorder) |
253298003 | Double outlet right ventricle with subaortic ventricular septal defect (disorder) |
253299006 | Double outlet right ventricle with noncommitted ventricular septal defect (disorder) |
253300003 | Double outlet right ventricle with doubly committed ventricular septal defect (disorder) |
253301004 | Double outlet from ventricle of indeterminate morphology (disorder) |
253302006 | Single outlet ventriculoarterial connection (disorder) |
253303001 | Solitary aortic trunk with pulmonary atresia (disorder) |
253304007 | Solitary pulmonary trunk with aortic atresia (disorder) |
253305008 | Solitary arterial trunk (disorder) |
253306009 | Abnormality of right superior vena cava (disorder) |
253307000 | Atretic right superior vena cava (disorder) |
253308005 | Absent right superior vena cava (disorder) |
253310007 | Anomalous insertion of right superior vena cava to left atrium (disorder) |
253311006 | Bilateral superior vena cava (disorder) |
253312004 | Absent bridging vein (disorder) |
253313009 | Inferior vena cava interruption with left sided hemiazygos continuation (disorder) |
253314003 | Inferior vena cava interruption with right sided azygos continuation (disorder) |
253315002 | Inferior vena cava interruption with bilateral azygos continuation (disorder) |
253316001 | Abnormal inferior vena caval connection (disorder) |
253317005 | Inferior vena cava connecting to morphological left atrium (disorder) |
253318000 | Inferior vena cava connecting to coronary sinus (disorder) |
253319008 | Inferior vena cava to left of spine (disorder) |
253320002 | Inferior cava to left of spine with right descending aorta (disorder) |
253321003 | Anomalous termination of right pulmonary vein (disorder) |
253324006 | Coronary sinus defect in left atrium (disorder) |
253326008 | Coronary sinus orifice atresia (disorder) |
253327004 | Congenital coronary sinus stenosis (disorder) |
253329001 | Ductus venosus abnormality (disorder) |
253330006 | Patent ductus venosus (disorder) |
253331005 | Closed ductus venosus (disorder) |
253333008 | Abnormal connection of hepatic vein to atrium (disorder) |
253335001 | Isomerism of atrial appendages (disorder) |
253336000 | Isomerism of right atrial appendage (disorder) |
253337009 | Isomerism of left atrial appendage (disorder) |
253338004 | Mirror imaged atria (disorder) |
253343006 | Anomalous valve of coronary sinus (disorder) |
253349005 | Right atrial hypoplasia (disorder) |
253353007 | Divided left atrium (disorder) |
253354001 | Supramitral left atrial ring (disorder) |
253356004 | Left atrial appendage absent (disorder) |
253357008 | Left atrial appendage - right - juxtaposition (disorder) |
253359006 | Left atrial endocardial fibroelastosis (disorder) |
253360001 | Left atrial hypoplasia (disorder) |
25336002 | Uterus parvicollis (disorder) |
253364005 | Foramen ovale valvar aneurysm (disorder) |
253371000 | Atrial septal defect through coronary sinus orifice (disorder) |
253373002 | Atrioventricular septal defect - isolated atrial component (disorder) |
253374008 | Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder) |
253376005 | Tricuspid annulus hypoplasia (disorder) |
253377001 | Dilatation of tricuspid annulus (disorder) |
253378006 | Overriding tricuspid valve (disorder) |
253379003 | Straddling tricuspid valve (disorder) |
253381001 | Absent tricuspid leaflet (disorder) |
253382008 | Double orifice of tricuspid valve (disorder) |
253384009 | Accessory tissue on tricuspid leaflet (disorder) |
253391007 | Parachute malformation of tricuspid valve (disorder) |
253392000 | Absent tricuspid papillary muscle (disorder) |
253393005 | Fused tricuspid papillary muscle (disorder) |
253394004 | Hypoplastic tricuspid papillary muscle (disorder) |
253395003 | Mitral valve dysplasia (disorder) |
253396002 | Mitral leaflet dysplasia (disorder) |
253397006 | Overriding mitral valve (disorder) |
253399009 | Straddling mitral valve (disorder) |
2534005 | Congenital absence of vena cava (disorder) |
253403000 | Ebstein-like downward displacement of mitral valve (disorder) |
253404006 | Anterior leaflet of mitral valve attached to septum (disorder) |
253405007 | Accessory tissue on mitral leaflet (disorder) |
253411005 | Absent mitral papillary muscle (disorder) |
253412003 | Fused mitral papillary muscles (disorder) |
253413008 | Hypoplastic mitral papillary muscle (disorder) |
253414002 | Atrioventricular septal defect and common atrioventricular junction (disorder) |
253415001 | Atrioventricular septal defect - isolated ventricular component (disorder) |
253416000 | Atrioventricular septal defect: atrial and ventricular components (disorder) |
253417009 | Atrioventricular septal defect - ventricular component (disorder) |
253418004 | Atrioventricular septal defect - ventricular component under superior bridging leaflet (disorder) |
253419007 | Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) |
253420001 | Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) |
253421002 | Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) |
253422009 | Atrioventricular septal defect - ventricular component under inferior bridging leaflet (disorder) |
253423004 | Malaligned atrial septum (disorder) |
253425006 | Double outlet right atrium (disorder) |
253426007 | Double outlet left atrium (disorder) |
253511007 | Congenital abnormality of ventricles and ventricular septum (disorder) |
253512000 | Tetralogy of Fallot with pulmonary stenosis (disorder) |
253513005 | Tetralogy of Fallot with pulmonary atresia (disorder) |
253514004 | Dextraposition of aorta in Fallot's tetralogy (disorder) |
253515003 | Ventricular septal defect in Fallot's tetralogy (disorder) |
253518001 | Diffuse hypoplasia of right ventricle (disorder) |
253519009 | Hypoplasia of right ventricular inflow tract (disorder) |
253520003 | Hypoplasia of right ventricular outflow tract (disorder) |
253521004 | Hypoplasia of right ventricular outflow tract and trabecular area (disorder) |
253523001 | Primary right ventricular endocardial fibroelastosis (disorder) |
253524007 | Two chambered right ventricle (disorder) |
253525008 | Congenital right ventricular diverticulum (disorder) |
253527000 | Congenital right ventricular aneurysm (disorder) |
253528005 | Arrhythmogenic right ventricular dysplasia (disorder) |
253529002 | Right ventricular outflow tract abnormality (disorder) |
253530007 | Right ventricular outflow tract obstruction (disorder) |
253531006 | Right ventricular outflow obstruction - localized (disorder) |
253532004 | Right ventricular outflow obstruction - tubular (disorder) |
253533009 | Right ventricular outflow tract atresia (disorder) |
253534003 | Right ventricular outflow tract absent (disorder) |
253536001 | Left ventricular hypoplasia (disorder) |
253537005 | Diffuse hypoplasia of left ventricle (disorder) |
253538000 | Hypoplasia of left ventricular inflow tract (disorder) |
253539008 | Hypoplasia of left ventricular outflow tract (disorder) |
253540005 | Hypoplasia of left ventricular outflow tract and trabecular area (disorder) |
253542002 | Abnormal left ventricular muscle band (disorder) |
253544001 | Congenital left ventricular aneurysm (disorder) |
253545000 | Left ventricular outflow tract abnormality (disorder) |
253546004 | Left ventricular outflow tract obstruction (disorder) |
253547008 | Left ventricular outflow tract atresia (disorder) |
253548003 | Indeterminate ventricular outflow tract obstruction (disorder) |
253550006 | Multiple ventricular septal defects (disorder) |
253551005 | Restrictive ventricular septal defect (disorder) |
253552003 | Perimembranous ventricular septal defect with extension to right ventricular inlet (disorder) |
253553008 | Perimembranous ventricular septal defect with extension to right ventricular trabecular component (disorder) |
253554002 | Perimembranous ventricular septal defect with extension to right ventricular outlet (disorder) |
253555001 | Perimembranous ventricular septal defect with extension to all right ventricular components (disorder) |
253556000 | Ventricular septal defect with malaligned outlet septum to right (disorder) |
253559007 | Ventricular septal defect with malaligned outlet septum to left (disorder) |
253562005 | Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) |
253563000 | Muscular ventricular septal defect in inlet septum (disorder) |
253564006 | Muscular ventricular septal defect in central trabecular septum (disorder) |
253565007 | Muscular ventricular septal defect in apical trabecular septum (disorder) |
253566008 | Muscular ventricular septal defect in marginal septum (disorder) |
253567004 | Muscular ventricular septal defect in outlet septum (disorder) |
253568009 | Doubly committed subarterial ventricular septal defect (disorder) |
253569001 | Doubly committed subarterial ventricular septal defect with membranous septum extension (disorder) |
253570000 | Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim (disorder) |
253571001 | Giant ventricular septal defect (disorder) |
253573003 | Subpulmonary infundibulum (disorder) |
253574009 | Subaortic infundibulum (disorder) |
253575005 | Bilateral muscular infundibula (disorder) |
253576006 | Bilateral deficient infundibula (disorder) |
253578007 | Congenital abnormality of arterial valves (disorder) |
253580001 | Truncal valve dysplasia (disorder) |
253584005 | Accessory tissue on truncal valve cusp (disorder) |
253585006 | Pulmonary valve cusp hypoplasia (disorder) |
253586007 | Pulmonary valve ring hypoplasia (disorder) |
253587003 | Commissural fusion of pulmonary valve (disorder) |
253588008 | Pulmonary valve dysplasia (disorder) |
253591008 | Pulmonary atresia with ventricular septal defect (disorder) |
253593006 | Imperforate pulmonary valve (disorder) |
253596003 | Absent pulmonary valve syndrome (disorder) |
253597007 | Accessory tissue on pulmonary valve cusp (disorder) |
253598002 | Unicuspid pulmonary valve (disorder) |
253599005 | Bicuspid pulmonary valve (disorder) |
253600008 | Quadricuspid pulmonary valve (disorder) |
253601007 | Aortic valve ring hypoplasia (disorder) |
253602000 | Commissural fusion of aortic valve (disorder) |
253603005 | Eccentric opening of aortic valve (disorder) |
253607006 | Hypoplasia of aortic valve cusp (disorder) |
253608001 | Accessory tissue on aortic valve cusp (disorder) |
253609009 | Abnormal number of aortic valve cusps (disorder) |
253610004 | Unicuspid aortic valve (disorder) |
253611000 | Quadricuspid aortic valve (disorder) |
253614008 | Tubular hypoplasia of aorta (disorder) |
253615009 | Anomalies of the aorta excluding coarction (disorder) |
253622001 | Pulmonary trunk hypoplasia (disorder) |
253623006 | Pulmonary trunk atresia (disorder) |
253624000 | Pulmonary atresia with confluent pulmonary arteries (disorder) |
253625004 | Pulmonary atresia with absent pulmonary artery (disorder) |
253627007 | Pulmonary trunk absent with confluent pulmonary arteries (disorder) |
253628002 | Pulmonary trunk absent with non-confluent pulmonary arteries (disorder) |
253629005 | Pulmonary trunk absent with absent pulmonary artery (disorder) |
253632008 | Abnormal origin of right pulmonary artery (disorder) |
253633003 | Anomalous origin of right pulmonary artery from ductus arteriosus (disorder) |
253634009 | Anomalous origin of right pulmonary artery from ascending aorta (disorder) |
253635005 | Abnormal origin of left pulmonary artery (disorder) |
253636006 | Anomalous origin of left pulmonary artery from ductus arteriosus (disorder) |
253637002 | Anomalous origin of left pulmonary artery from ascending aorta (disorder) |
253638007 | Anomalous origin of left pulmonary artery from right pulmonary artery (disorder) |
253643000 | Ascending aortic atresia (disorder) |
253644006 | Ascending aorta absent (disorder) |
253646008 | Congenital aneurysm of ascending aorta (disorder) |
253649001 | Aortic tunnel (disorder) |
253650001 | Aorta to right ventricle tunnel (disorder) |
253652009 | Right descending aorta (disorder) |
253653004 | Left aortic arch and right descending aorta (disorder) |
253654005 | Right aortic arch and right descending aorta (disorder) |
253655006 | Right aortic arch and left descending aorta (disorder) |
253656007 | Aortic arch centrally descending (disorder) |
253657003 | Cervical aortic arch (disorder) |
253658008 | Persisting fifth aortic arch (disorder) |
253660005 | Double aortic arch with both patent (disorder) |
253663007 | Vascular ring with left aortic arch (disorder) |
253664001 | Vascular ring with right aortic arch (disorder) |
253667008 | Aberrant retroesophageal brachiocephalic artery (disorder) |
253668003 | Isolation of subclavian artery (disorder) |
253669006 | Ductus arteriosus from subclavian artery (disorder) |
253670007 | Ductus arteriosus from retroesophageal aortic diverticulum (disorder) |
253672004 | Preductal aortic stenosis (disorder) |
253673009 | Preductal interruption of aorta (disorder) |
253674003 | Preductal hypoplasia of aorta (disorder) |
253675002 | Juxtaductal aortic coarctation (disorder) |
253676001 | Postductal aortic stenosis (disorder) |
253677005 | Postductal interruption of aorta (disorder) |
253678000 | Thoracic aortic coarctation (disorder) |
253679008 | Abdominal aortic coarctation (disorder) |
253680006 | Postductal hypoplasia of aorta (disorder) |
253681005 | Interrupted aortic arch distal to left subclavian artery (disorder) |
253682003 | Interrupted aortic arch between left subclavian and left common carotid artery (disorder) |
253683008 | Interrupted aortic arch between left common carotid and brachiocephalic artery (disorder) |
253685001 | Patent ductus arteriosus - delayed closure (disorder) |
253687009 | Abnormal origin of ductus arteriosus (disorder) |
253688004 | Collaterals to pulmonary arteries (disorder) |
253689007 | Major aortopulmonary collateral artery (disorder) |
253690003 | Systemic to pulmonary collateral artery (disorder) |
253691004 | Stenosis of systemic to pulmonary artery collateral artery (disorder) |
253692006 | Bronchopulmonary collateral artery (disorder) |
253693001 | Congenital abnormalities of thoracic aortic branches (disorder) |
253696009 | Distal origin of brachiocephalic trunk (disorder) |
253697000 | Isolation of branch of aortic arch (disorder) |
253698005 | Isolation of brachiocephalic trunk (disorder) |
253699002 | Isolation of common carotid artery (disorder) |
253700001 | Variant coronary origin from aortic sinus (disorder) |
253703004 | Anomalous origin of coronary artery from non-facing sinus (disorder) |
253704005 | Anomalous origin of left anterior descending from right coronary artery (disorder) |
253706007 | Anomalous origin of coronary artery from pulmonary arterial tree (disorder) |
253707003 | Anomalous origin of coronary artery from right pulmonary artery (disorder) |
253708008 | Anomalous origin of coronary artery from left pulmonary artery (disorder) |
253710005 | Coronary orifice abnormally high (disorder) |
253711009 | Coronary orifice asymmetrical (disorder) |
253712002 | Dual coronary orifice (disorder) |
253714001 | Abnormal coronary artery course (disorder) |
253715000 | Intramural coronary artery course (disorder) |
253716004 | Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) |
253717008 | Coronary artery runs between aorta and pulmonary trunk (disorder) |
253718003 | Circumflex runs posterior to pulmonary trunk (disorder) |
253719006 | Circumflex runs posterior to aorta (disorder) |
253720000 | Congenital coronary arteriovenous fistula (disorder) |
253725005 | Congenital coronary artery calcification (disorder) |
253728007 | Right dominant coronary system (disorder) |
253729004 | Left dominant coronary system (disorder) |
253730009 | Balanced coronary system (disorder) |
253731008 | Partial agenesis of pericardium (disorder) |
253732001 | Totally absent pericardium (disorder) |
253733006 | Pleuropericardial cyst (disorder) |
253734000 | Pericardial diverticulum (disorder) |
253736003 | Laryngeal hypoplasia (disorder) |
253737007 | Congenital laryngomalacia (disorder) |
253740007 | Congenital malformation of trachea and bronchus (disorder) |
253741006 | Congenital tracheoesophageal cleft (disorder) |
253742004 | Primary congenital bronchomalacia (disorder) |
253743009 | Secondary congenital bronchomalacia (disorder) |
253745002 | Dysplasia of lung (disorder) |
253746001 | Ectopic bone and cartilage in lung (disorder) |
253747005 | Bronchopulmonary isomerism (disorder) |
253750008 | Congenital malformation of tongue, mouth and pharynx (disorder) |
253751007 | Flat palate (disorder) |
253752000 | Lobulated tongue (disorder) |
253755003 | Congenital malformation of salivary glands and ducts (disorder) |
253756002 | Displacement of Wharton's duct (disorder) |
253757006 | Accessory salivary duct (disorder) |
253760004 | Congenital esophageal ring (disorder) |
253764008 | Congenital absence, atresia and stenosis of small intestine (disorder) |
253771003 | High anorectal malformation (disorder) |
253772005 | Low anorectal malformation (disorder) |
253773000 | Congenital fistula of rectum (disorder) |
253774006 | Congenital fistula of anus (disorder) |
253780003 | Total colonic aganglionosis (disorder) |
253781004 | Megacystis, microcolon, hypoperistalsis syndrome (disorder) |
253783001 | Neuronal intestinal dysplasia (disorder) |
253786009 | Congenital volvulus (disorder) |
253789002 | Familial intestinal malrotation (disorder) |
253791005 | Congenital blind loop syndrome (disorder) |
253792003 | Congenital diverticulosis (disorder) |
253793008 | Congenital redundant rectal mucosa (disorder) |
253794002 | Congenital redundant colon (disorder) |
253795001 | Enteric duplication (disorder) |
253796000 | Jejunum duplex (disorder) |
253797009 | Ileum duplex (disorder) |
253799007 | Partial duplication of appendix (disorder) |
253800006 | Complete duplication of appendix (disorder) |
253801005 | Triplication of appendix (disorder) |
253802003 | Embryonic cyst of mesentery (disorder) |
253804002 | Biliary anomalies (disorder) |
253807009 | Intrahepatic biliary atresia (disorder) |
253808004 | Congenital kink of cystic duct (disorder) |
253811003 | Abnormal liver lobulation (disorder) |
253812005 | Trilobular liver (disorder) |
253813000 | Ectopic liver (disorder) |
253814006 | Focal nodular hypoplasia of liver (disorder) |
253815007 | Pancreatic duct anomaly (disorder) |
253817004 | Congenital absent hemidiaphragm - bilateral (disorder) |
253818009 | Congenital malformation of anterior abdominal wall (disorder) |
253822004 | Congenital torsion of ovary (disorder) |
253823009 | Embryonic cyst of ovary (disorder) |
253826001 | Embryonic cyst of broad ligament (disorder) |
253827005 | Congenital malformation of uterus and cervix (disorder) |
253828000 | Mullerian aplasia (disorder) |
253829008 | Solid rudimentary uterus (disorder) |
253832006 | Hypoplasia of uterus and cervix (disorder) |
253833001 | Embryonic cyst of cervix (disorder) |
253834007 | Agenesis of lower vagina (disorder) |
253835008 | Atresia of lower vagina (disorder) |
253836009 | Hypoplasia of vagina (disorder) |
253837000 | Congenital urethrovaginal fistula (disorder) |
253838005 | Congenital absence of labium minor (disorder) |
253839002 | Congenital absence of labium major (disorder) |
253840000 | Duplication of external genitalia (disorder) |
253842008 | Congenital malformation of clitoris (disorder) |
253843003 | Hooded clitoris (disorder) |
253844009 | Duplication of clitoris (disorder) |
253845005 | Maldescent of testis, bilateral (disorder) |
253849004 | Congenital buried penis (disorder) |
253851000 | Diphallus (disorder) |
253852007 | Webbed penis (disorder) |
253854008 | Congenital phimosis (disorder) |
253855009 | Short preputial frenulum (disorder) |
253856005 | Congenital parameatal cyst (disorder) |
253857001 | False hermaphrodite (disorder) |
253859003 | Congenital malformation of the urinary system (disorder) |
253860008 | Pyelon triplex (disorder) |
253862000 | Trifid kidney (disorder) |
253864004 | Familial hypoplastic, glomerulocystic kidney (disorder) |
253865003 | Crossed ectopia of kidney, without fusion (disorder) |
253866002 | Crossed ectopia of kidney with fusion anomaly (disorder) |
253867006 | Thoracic kidney (disorder) |
253869009 | Cake kidney (disorder) |
253872002 | Bifid kidney (disorder) |
253873007 | Duplex kidney with reflux in one ureter (disorder) |
253874001 | Duplex kidney with reflux in both ureters (disorder) |
253875000 | Congenital calyceal diverticulum (disorder) |
253884000 | Medullary sponge kidney with nephrocalcinosis (disorder) |
253885004 | Medullary sponge kidney without nephrocalcinosis (disorder) |
253886003 | Congenital obstructive defect of renal pelvis (disorder) |
253887007 | Congenital ureteric valves (disorder) |
253888002 | Triplex ureter (disorder) |
253890001 | Crossed ectopic ureter (disorder) |
253891002 | Transcaval ureter (disorder) |
253892009 | Congenital diverticulum of ureter (disorder) |
253893004 | Congenital polyp of ureter (disorder) |
253894005 | Ectopic ureterocele (disorder) |
253897003 | Congenital vesicoureterorenal reflux, bilateral (disorder) |
253899000 | Urachal diverticulum (disorder) |
253900005 | Congenital posterior urethral valves (disorder) |
253901009 | Congenital urethral posterior valvular stricture (disorder) |
253902002 | Atresia of urethra (disorder) |
253903007 | Congenital short urethra (disorder) |
253904001 | Megacystis-megaureter syndrome (disorder) |
253905000 | Megalourethra (disorder) |
253906004 | Congenital urethral syringocele (disorder) |
253907008 | Congenital anterior urethral valve (disorder) |
253909006 | Congenital gastrointestinal-urinary tract fistula (disorder) |
253916007 | Aberrant muscle of the upper limb (disorder) |
253917003 | Failure of differentiation of bones of forearm (disorder) |
253918008 | Duplication of upper limb (disorder) |
253919000 | Duplication of whole upper limb (disorder) |
253920006 | Overgrowth of upper limb (disorder) |
253924002 | Acrosyndactyly of the thumb (disorder) |
253925001 | Acrosyndactyly of the fingers (disorder) |
253926000 | Phocomelia of upper limb (disorder) |
253929007 | Hypoplasia of upper limb (disorder) |
253930002 | Carpal synostosis (disorder) |
253932005 | Brachysyndactyly of thumb (disorder) |
253936008 | Hypoplasia of thumb (disorder) |
253937004 | Congenital abnormality of lower limb and pelvic girdle (disorder) |
253939001 | Duplication of whole lower limb (disorder) |
253940004 | Duplication of femur (disorder) |
253941000 | Duplication of tibia (disorder) |
253942007 | Duplication of fibula (disorder) |
253943002 | Duplication of tarsal bone (disorder) |
253944008 | Duplication of the whole foot (disorder) |
253945009 | Congenital overgrowth of partial lower limb (disorder) |
253946005 | Congenital undergrowth of partial lower limb (disorder) |
253947001 | Congenital leg bone bowing (disorder) |
253953001 | Dislocatable hip (disorder) |
253954007 | Subluxatable hip (disorder) |
253955008 | Congenital deformity of foot and ankle (disorder) |
253958005 | Congenital metatarsus valgus (disorder) |
253959002 | Hypoplasia of lower limb (disorder) |
253961006 | Transverse deficiency of toe (disorder) |
253965002 | Agenesis of multiple metatarsal bones (disorder) |
253966001 | Congenital abnormality of foot and toes (disorder) |
253967005 | Mesoaxial polydactyly of toe (disorder) |
253968000 | Simple syndactyly of toes second to fourth web (disorder) |
253969008 | Osseous syndactyly of toes second to fourth web (disorder) |
25397008 | Aqueduct of Sylvius anomaly (disorder) |
253971008 | Bifid digit (disorder) |
253972001 | Syndactyly of the thumb (disorder) |
253975004 | Symphalangism (disorder) |
253977007 | Congenital sternomastoid tumor (disorder) |
253979005 | Skull congenital deformities (disorder) |
253980008 | Defect of skull ossification (disorder) |
253984004 | Bilateral complete and incomplete cleft lip (disorder) |
253989009 | Bilateral incomplete cleft lip and alveolus (disorder) |
253993003 | Cleft hard palate, central (disorder) |
253994009 | Cleft hard palate, bilateral (disorder) |
253995005 | Incomplete cleft hard and soft palate (disorder) |
253996006 | Complete cleft hard and soft palate (disorder) |
253997002 | Cleft of soft palate (disorder) |
254000002 | Cleft soft palate, bilateral (disorder) |
254001003 | Complete cleft of soft palate (disorder) |
254002005 | Incomplete cleft of soft palate (disorder) |
254003000 | Occult submucous cleft palate (disorder) |
254004006 | Midline facial cleft - Tessier cleft 0 (disorder) |
254005007 | Midline facial cleft - Tessier cleft 14 (disorder) |
254006008 | Midline facial cleft - Tessier cleft 30 (disorder) |
254007004 | Paramedian facial cleft - Tessier cleft 1 (disorder) |
254008009 | Paramedian facial cleft - Tessier cleft 2 (disorder) |
254009001 | Paramedian facial cleft - Tessier cleft 3 (disorder) |
254010006 | Supraorbital facial cleft - Tessier cleft 8 (disorder) |
254011005 | Supraorbital facial cleft - Tessier cleft 9 (disorder) |
254012003 | Supraorbital facial cleft - Tessier cleft 10 (disorder) |
254013008 | Supraorbital facial cleft - Tessier cleft 11 (disorder) |
254014002 | Supraorbital facial cleft - Tessier cleft 12 (disorder) |
254015001 | Supraorbital facial cleft - Tessier cleft 13 (disorder) |
254016000 | Infraorbital facial cleft - Tessier cleft 4 (disorder) |
254017009 | Infraorbital facial cleft - Tessier cleft 5 (disorder) |
254018004 | Infraorbital facial cleft - Tessier cleft 6 (disorder) |
254019007 | Infraorbital facial cleft - Tessier cleft 7 (disorder) |
254020001 | Unicoronal craniosynostosis (disorder) |
254021002 | Bicoronal craniosynostosis (disorder) |
254022009 | Cloverleaf skull syndrome (disorder) |
254023004 | Congenital abnormality of skull shape (disorder) |
254025006 | Hemifacial microsomia (disorder) |
254026007 | Craniofacial microsomia (disorder) |
254027003 | Bilateral craniofacial microsomia (disorder) |
254033007 | Congenital deformity of lumbosacral region (disorder) |
254034001 | Congenital deformity of lumbosacral joint (disorder) |
254038003 | Congenital absence of spine (disorder) |
254039006 | Congenital lumbosacral fusion (disorder) |
254040008 | Congenital sacrococcygeal anomaly (disorder) |
254041007 | Congenital malformation of sternum (disorder) |
254043005 | Defects of the tubular (and flat) bones and/or axial skeleton (disorder) |
254044004 | Multiple congenital exostosis (disorder) |
254045003 | Spondylodysplasia (disorder) |
254046002 | Spondylodysplasia, San Diego type (disorder) |
254047006 | Spondylodysplasia, Torrance type (disorder) |
254048001 | Spondylodysplasia, Luton type (disorder) |
254049009 | Schneckenbecken dysplasia (disorder) |
254050009 | Short rib dysplasia (disorder) |
254051008 | Type III short rib polydactyly syndrome (disorder) |
254052001 | Type IV short rib polydactyly syndrome (disorder) |
254054000 | Boomerang dysplasia (disorder) |
254055004 | Atelosteogenesis type 2 (disorder) |
254058002 | Pseudodiastrophic dysplasia (disorder) |
254059005 | Kniest-Stickler dysplasia (disorder) |
254060000 | Otospondylomegaepiphyseal dysplasia (disorder) |
254061001 | Achondrogenesis, type II (disorder) |
254062008 | Spondyloepimetaphyseal disorder (disorder) |
254064009 | Namaqualand hip dysplasia (disorder) |
254065005 | Progressive pseudorheumatoid dysplasia (disorder) |
254066006 | Wolcott-Rallison dysplasia (disorder) |
254067002 | Immuno-osseous dysplasia (disorder) |
254068007 | Opsismodysplasia (disorder) |
254069004 | Dysostosis multiplex (disorder) |
254078005 | Spondylometaphyseal dysplasia - Sutcliffe type (disorder) |
254079002 | Spondyloenchondrodysplasia (disorder) |
254080004 | Epiphyseal dysplasia (disorder) |
254082007 | Chondrodysplasia punctata, X-linked recessive type (disorder) |
254083002 | Chondrodysplasia punctata, tibia-metacarpal type (disorder) |
254084008 | Metaphyseal chondrodysplasia, Spahr type (disorder) |
254085009 | Metaphyseal anadysplasia (disorder) |
254087001 | Brachyrachia (short spine dysplasia) (disorder) |
254088006 | Brachyolmia (disorder) |
254090007 | Acromicric dysplasia (disorder) |
254091006 | Trichorhinophalangeal dysplasia type I (disorder) |
254092004 | Saldino-Mainzer dysplasia (disorder) |
254093009 | Cranioectodermal dysplasia (disorder) |
254094003 | Dysplasias with significant membranous bone involvement (disorder) |
254095002 | Bent bone dysplasia (disorder) |
254096001 | Kyphomelic dysplasia (disorder) |
254097005 | Stuve-Wiedemann dysplasia (disorder) |
254098000 | Multiple dislocations with dysplasia (disorder) |
254099008 | Desbuquois syndrome (disorder) |
254100000 | Spondyloepimetaphyseal dysplasia with joint laxity (disorder) |
254101001 | Osteodysplastic primordial dwarfism (disorder) |
254102008 | Osteodysplastic primordial dwarfism, type 1 (disorder) |
254103003 | Osteodysplastic primordial dwarfism, type 2 (disorder) |
254104009 | Dysplasia with decreased bone density (disorder) |
254110009 | Osteogenesis imperfecta type IIA (disorder) |
254111008 | Osteogenesis imperfecta type IIB (disorder) |
254112001 | Osteoporosis with pseudoglioma (disorder) |
254113006 | Bruck syndrome (disorder) |
254114000 | Singleton-Merten syndrome (disorder) |
254116003 | Geroderma osteodysplastica (disorder) |
254117007 | Dysplasia with defective mineralization (disorder) |
254120004 | Dysplasia with increased bone density (disorder) |
254121000 | Osteopetrosis - intermediate type (disorder) |
254122007 | Osteopetrosis with renal tubular acidosis (disorder) |
254123002 | Dysosteosclerosis (disorder) |
254124008 | Osteosclerosis - Stanescu type (disorder) |
254125009 | Axial osteosclerosis (disorder) |
254129003 | Osteopathia striata with cranial sclerosis (disorder) |
254130008 | Endosteal hyperostoses (disorder) |
254131007 | Worth disease (disorder) |
254132000 | Endosteal hyperostoses with cerebellar hypoplasia (disorder) |
254133005 | Pachydermoperiostosis - familial (disorder) |
254134004 | Craniometaphyseal dysplasia - severe type (disorder) |
254135003 | Craniometaphyseal dysplasia - mild type (disorder) |
254137006 | Oculodento-osseous dysplasia (disorder) |
254138001 | Oculodento-osseous dysplasia - severe type (disorder) |
254139009 | Oculodento-osseous dysplasia - mild type (disorder) |
254140006 | Disorganized development of cartilaginous and fibrous components of the skeleton (disorder) |
254142003 | Pseudochondroplasia (disorder) |
254144002 | Osteoglophonic dysplasia (disorder) |
254147009 | Idiopathic osteolyses (disorder) |
254148004 | Hereditary acroosteolysis (disorder) |
254149007 | Carpal-tarsal osteolysis with nephropathy (disorder) |
254151006 | Winchester syndrome (disorder) |
254152004 | Torg type osteolysis (disorder) |
254153009 | Familial expansile osteolysis (disorder) |
254154003 | Congenital ectodermal defect (disorder) |
254156001 | Congenital ichthyosiform erythroderma (disorder) |
254157005 | Ichthyosis vulgaris (disorder) |
254158000 | Autosomal dominant ichthyosis vulgaris (disorder) |
254159008 | Severe ichthyoses (disorder) |
254161004 | Erythrodermic lamellar ichthyosis (disorder) |
254163001 | Non-erythrodermic lamellar ichthyosis (disorder) |
254164007 | Autosomal dominant lamellar ichthyosis (disorder) |
254167000 | Bullous ichthyosiform erythroderma (disorder) |
254168005 | Localized bullous ichthyosiform erythroderma (disorder) |
254169002 | Ichthyosis bullosa of Siemens (disorder) |
254170001 | Ichthyosis hystrix of Curth-Macklin (disorder) |
254171002 | Maleformatio ectodermalis generalisata of Bafverstedt (disorder) |
254172009 | Ichthyosis hystrix gravior of Rheydt (disorder) |
254173004 | Hystrix ichthyosis with deafness (disorder) |
254174005 | Porcupine man (disorder) |
254176007 | Progressive recessive dystrophic epidermolysis bullosa (disorder) |
254177003 | Epidermolysis bullosa simplex with hypodontia (disorder) |
254179000 | Epidermolysis bullosa simplex herpetiformis (disorder) |
254180002 | Epidermolysis bullosa simplex with mottled pigmentation (disorder) |
25418001 | Primordial cyst (disorder) |
254181003 | Epidermolysis simplex superficialis (disorder) |
254183000 | Lethal autosomal recessive epidermolysis bullosa simplex (disorder) |
254185007 | Dystrophic epidermolysis bullosa (disorder) |
254186008 | Localized dystrophic epidermolysis bullosa (disorder) |
254187004 | Localized recessive dystrophic epidermolysis bullosa (disorder) |
254188009 | Generalized dystrophic epidermolysis bullosa (disorder) |
254189001 | Generalized recessive dystrophic epidermolysis bullosa mitis (disorder) |
254191009 | Localized junctional epidermolysis bullosa (disorder) |
254192002 | Inverse junctional epidermolysis bullosa (disorder) |
254193007 | Progressive junctional epidermolysis bullosa (neurotrophic) (disorder) |
254194001 | Generalized junctional epidermolysis bullosa (disorder) |
254196004 | Junctional epidermolysis bullosa mitis (disorder) |
254197008 | Cicatricial junctional epidermolysis bullosa (disorder) |
254207007 | Reticulate vascular nevus (disorder) |
254211001 | Salmon patch nevus (disorder) |
254214009 | Inherited disorder of keratinization (disorder) |
254215005 | Erythrokeratoderma (disorder) |
254216006 | Hereditary erythrokeratolysis (disorder) |
254217002 | Hereditary acantholytic dermatosis (disorder) |
254218007 | Hereditary follicular keratoses (disorder) |
254219004 | Familial dyskeratotic comedones (disorder) |
254220005 | Inherited cutis laxa (disorder) |
254221009 | Neonatal cutis laxa with marfanoid phenotype (disorder) |
254222002 | Cutis laxa, recessive, type I (disorder) |
254223007 | Cutis laxa, recessive, type II (disorder) |
254225000 | Congenital alopecia with keratin cysts (disorder) |
254227008 | Hypotrichosis with keratosis pilaris and lentiginosis (disorder) |
254230001 | Uncombable hair syndrome (disorder) |
254231002 | Congenital wooly hair (disorder) |
254233004 | Congenital ringed hair (disorder) |
254234005 | Marie Unna syndrome (disorder) |
254236007 | Congenital enlarged nails (disorder) |
254239000 | Congenital retraction of nipple (disorder) |
254241004 | Segmental neurofibromatosis (disorder) |
254243001 | Ash leaf spot, tuberous sclerosis (disorder) |
254246009 | Congenital malformation caused by cytotoxic agents (disorder) |
254247000 | Fetal benzodiazepine syndrome (disorder) |
254249002 | Fetal carbamazepine syndrome (disorder) |
254250002 | Fetal cocaine syndrome (disorder) |
254252005 | Fetal misoprostol syndrome (disorder) |
254254006 | Fetal toluene syndrome (disorder) |
254255007 | Congenital malformation of anterior pituitary (disorder) |
254256008 | Congenital malformation of posterior pituitary (disorder) |
254258009 | Synchephalus twins (disorder) |
254734009 | Malignant melanoma arising in congenital nevus (disorder) |
254774003 | Cobb's syndrome (disorder) |
254778000 | Congenital livedo reticularis (disorder) |
254780006 | Arteriovenous malformation of skin (disorder) |
254787009 | Verrucous hemangioma of skin (disorder) |
254793001 | Cavernous lymphangioma of skin (disorder) |
254815002 | Congenital giant pigmented nevus of skin (disorder) |
254817005 | Oculocutaneous melanocytic nevus (disorder) |
254836000 | Congenital lymphangioma (disorder) |
255581000119100 | Simple craniosynostosis (disorder) |
25559009 | Congenital absence of left pulmonary artery (disorder) |
2560006 | Syndactyly of fingers with fusion of bones (disorder) |
25606004 | Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) |
25642007 | Congenital fissure of sternum (disorder) |
25896009 | Congenital atresia of ileum (disorder) |
2593002 | Dubowitz's syndrome (disorder) |
25972003 | Congenital absence of rectum (disorder) |
26061003 | Congenital absence of external auditory canal (disorder) |
26098002 | Microcornea (disorder) |
261407007 | Band of Ladd (disorder) |
26146002 | Complete transposition of great vessels (disorder) |
261482004 | Spinal arteriovenous malformation (disorder) |
26179002 | Congenital atresia of esophagus (disorder) |
26201005 | Aortic left ventricular tunnel (disorder) |
262263007 | Vitellointestinal band (disorder) |
2625009 | Senter syndrome (disorder) |
26336006 | Tyrosinase-positive oculocutaneous albinism (disorder) |
263944006 | Anterolateral muscle band (disorder) |
263961009 | Bilateral isomeric atria (disorder) |
26399002 | Ocular albinism (disorder) |
263993001 | Epoophoron (disorder) |
26408002 | Congenital tracheocele (disorder) |
264086008 | Malaligned outlet septum (disorder) |
264162009 | Posteromedial muscle band (disorder) |
264195003 | Simonart's band (disorder) |
264258007 | Persistent vertical vein (disorder) |
264467005 | False tendon - heart (disorder) |
264480008 | Persistent Gartner's duct (disorder) |
264491001 | Mullerian remnant (disorder) |
264571006 | Septoparietal trabeculations (disorder) |
264917009 | Upper moiety ureter of duplex kidney (disorder) |
264918004 | Lower moiety ureter of duplex kidney (disorder) |
265569002 | Aland eye disease and ocular albinism (disorder) |
26568002 | Faun tail syndrome (disorder) |
265798000 | Amelia of lower limb (disorder) |
26590002 | Congenital ectropion (disorder) |
26594006 | Syringobulbia (disorder) |
26595007 | Congenital absence of part of brain (disorder) |
26624006 | Anodontia (disorder) |
266673001 | Ectopic neuronal tissue (disorder) |
26718008 | Robinson nail dystrophy-deafness syndrome (disorder) |
26730002 | Persistent thyroglossal duct (disorder) |
267372009 | Congenital non bullous ichthyosiform erythroderma (disorder) |
267585008 | Rieger eye malformation sequence (disorder) |
26780008 | Coarctation of pulmonary artery (disorder) |
268143001 | Spina bifida with hydrocephalus - open (disorder) |
268146009 | Spina bifida without hydrocephalus - open (disorder) |
268158009 | Megalocornea (disorder) |
268160006 | Congenital corneal opacity (disorder) |
268163008 | Congenital ptosis (disorder) |
268166000 | Ear auricle and external auditory canal absent (disorder) |
268172000 | Congenital malposition of ear (disorder) |
268173005 | Branchial cleft sinus and fistula (disorder) |
268174004 | Bulbus cordis and cardiac septal closure anomalies (disorder) |
268180007 | Right hypoplastic heart syndrome (disorder) |
268187005 | Congenital pulmonary artery aneurysm (disorder) |
268195009 | Ectopic tissue in lung (disorder) |
268197001 | Central incomplete cleft palate (disorder) |
268201001 | Esophageal atresia, stenosis and fistula (disorder) |
268205005 | Atresia and stenosis of large intestine, rectum and anal canal (disorder) |
268213006 | Congenital abnormality of liver and/or biliary tract (disorder) |
268219005 | Embryonic cyst of fallopian tube and broad ligament (disorder) |
268223002 | Congenital fusion of labia (disorder) |
268228006 | Undescended testes - bilateral (disorder) |
268232000 | Bilateral renal hypoplasia (disorder) |
268234004 | Fibrocystic kidney disease (disorder) |
268236002 | Congenital bladder neck stenosis (disorder) |
268237006 | Congenital urethral valvular stricture (disorder) |
268239009 | Congenital abnormality of skull and face bones (disorder) |
268240006 | Congenital torticollis (disorder) |
268243008 | Genu recurvatum and long leg bone bowing (disorder) |
268251006 | Simple syndactyly of fingers (disorder) |
268262006 | Acrocephalosyndactyly (disorder) |
268264007 | Constriction ring of upper limb with lymphedema (disorder) |
268265008 | Congenital anomalies of elbow and upper arm (disorder) |
268274005 | Enchondromatosis (disorder) |
268276007 | Congenital exostosis (disorder) |
268282005 | Ichthyosiform erythroderma (disorder) |
268288009 | Congenital generalized alopecia (disorder) |
268290005 | Hypoplasia of nipple (disorder) |
268302006 | Aberrant thyroid gland (disorder) |
26865008 | Congenital absence of superior vena cava (disorder) |
26885007 | Cervical auricle (disorder) |
268854008 | Congenital renal failure (disorder) |
2689001 | Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) |
27025001 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder) |
270510008 | Anomalous coronary artery communication (disorder) |
270513005 | Central complete cleft palate (disorder) |
270516002 | Congenital macroglossia (disorder) |
270517006 | Triple kidney with triple pelvis (disorder) |
270518001 | Agenesis of carpals and metacarpals (disorder) |
270519009 | Localized congenital skull defect (disorder) |
270963009 | Congenital absence of thumb (disorder) |
271015004 | Congenital instability of hip joint (disorder) |
271018002 | Congenital absence of tendon (disorder) |
271020004 | Congenital absence of breast with absent nipple (disorder) |
271387005 | Congenital enlarged kidney (disorder) |
271432005 | Congenital renal artery stenosis (disorder) |
271542005 | Aberrant intrinsic muscles of hand (disorder) |
271573009 | Congenital abnormality of thoracic aorta and pulmonary arteries (disorder) |
271574003 | Congenital partial fusion of spine (disorder) |
27173008 | Tarsal coalitions (disorder) |
271961001 | Congenital malformation of ovaries and fallopian tubes (disorder) |
27262009 | Congenital absence of pectoral muscle (disorder) |
27272007 | Byzanthine arch palate (disorder) |
27299009 | Congenital maxillary hypoplasia (disorder) |
2736005 | Atrophoderma vermiculatum (disorder) |
27409004 | Congenital macrocheilia (disorder) |
274151005 | Congenital absence of testis (disorder) |
2749000 | Congenital deformity of hip joint (disorder) |
274947007 | Divided right atrium (disorder) |
275259005 | Congenital malformation of ear (disorder) |
275260000 | Congenital malformation of the respiratory system (disorder) |
275262008 | Congenital malformation of upper alimentary tract (disorder) |
275348004 | Adactyly (disorder) |
275407001 | Double kidney with double pelvis (disorder) |
275416002 | Congenital bilateral aplasia of vas deferens (disorder) |
275519006 | Peripheral arteriovenous malformation (disorder) |
27637000 | Dextrocardia (disorder) |
276518005 | Transient tricuspid regurgitation of newborn (disorder) |
276654001 | Congenital malformation (disorder) |
276655000 | Congenital deformity (disorder) |
276656004 | Fetal postural deformity (disorder) |
276720006 | Dysmorphism (disorder) |
276723008 | Intrahepatic biliary hypoplasia (disorder) |
276752006 | Embryological remnant (disorder) |
27680009 | Congenital hyperplasia of sebaceous glands of lip (disorder) |
27729002 | Pyloric atresia (disorder) |
277299009 | Ruptured cerebral arteriovenous malformation (disorder) |
277301002 | Ruptured spinal arteriovenous malformation (disorder) |
27742002 | Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder) |
277485007 | Secondary pulmonary hypoplasia (disorder) |
277486008 | Pulmonary hypoplasia associated with short gestation (disorder) |
277494001 | Vascular loops of inner ear (disorder) |
277495000 | Vascular malformation of inner ear (disorder) |
277656005 | Primary pulmonary hypoplasia (disorder) |
27774009 | Congenital deformity of ankle joint (disorder) |
277807007 | Curry-Hall syndrome (disorder) |
277810000 | Trichodental syndrome (disorder) |
277921008 | Atelencephaly (disorder) |
277922001 | Aprosencephaly (disorder) |
277949001 | Combined malformation of central nervous system and skeletal muscle (disorder) |
277950001 | Muscle eye brain disease (disorder) |
27837003 | Pyle metaphyseal dysplasia (disorder) |
278503003 | Congenital hypothyroidism with diffuse goiter (disorder) |
278509004 | Congenital non-progressive ataxia (disorder) |
278530008 | Atresia of nasolacrimal duct (disorder) |
278531007 | Congenital hydrocalicosis (disorder) |
278532000 | Transverse deficiency lower limb - knee level (disorder) |
278708009 | Spondylodysplastic group (disorder) |
278710006 | Short rib dysplasia group (with or without polydactyly) (disorder) |
278712003 | Kniest-Stickler dysplasia group (disorder) |
278713008 | Spondyloepiphyseal dysplasia congenita group (disorder) |
278715001 | Chondrodysplasia punctata (stippled epiphyses) group (disorder) |
278832007 | Bent bone dysplasia group (disorder) |
278833002 | Craniometadiaphyseal dysplasia (disorder) |
278834008 | Idiopathic multicentric osteolysis (disorder) |
278928000 | Transient mitral regurgitation of newborn (disorder) |
278991002 | Sialic storage disease (disorder) |
279014003 | Congenital abnormality of nipple (disorder) |
279081001 | Dysostosis multiplex group (disorder) |
279082008 | Acromesomelic dysplasia group (disorder) |
279309008 | Osteogenesis imperfecta, type IV B (disorder) |
27986000 | Congenital pulmonary arteriovenous aneurysm (disorder) |
279919005 | Tubule of epoophoron (disorder) |
279920004 | Duct of epoophoron (disorder) |
279921000 | Vesicular appendix of ovary (disorder) |
279922007 | Paroophoron (disorder) |
279923002 | Tubule of paroophoron (disorder) |
280143008 | Venous remnant (disorder) |
280144002 | Persistent descending vein (disorder) |
280159008 | Osteogenesis imperfecta, type IV A (disorder) |
28016005 | Jackson's membrane (disorder) |
28041003 | Congenital lip pits (disorder) |
28065000 | Intralobar bronchopulmonary sequestration (disorder) |
28070007 | Congenital maxillary hyperplasia (disorder) |
280831005 | Arterial embryological remnant (disorder) |
281095009 | Congenital stricture of common bile duct (disorder) |
281109007 | Vestigial gastrointestinal remnant (disorder) |
281372009 | Lumbarized first sacral vertebra (disorder) |
281373004 | Sacralization of fifth lumbar vertebra (disorder) |
281585008 | Crossed ectopia of testis (disorder) |
281587000 | Pentalogy of Cantrell (disorder) |
2818004 | Congenital vascular anomaly of eye (disorder) |
281899002 | Congenital hydrocephalus caused by toxoplasmosis (disorder) |
282038006 | Congenital abnormality of external ear (disorder) |
282040001 | Congenital abnormality of nose and nasopharynx (disorder) |
28204005 | Inherited arthrogryposis (disorder) |
282041002 | Congenital abnormality of oral cavity (disorder) |
282042009 | Congenital abnormality of salivary duct (disorder) |
2828008 | Congenital stenosis of nares (disorder) |
2829000 | Uhl's disease (disorder) |
285251000119101 | Dextrotransposition of the great arteries (disorder) |
28550007 | Congenital capsular cataract (disorder) |
28557005 | Geleophysic dysplasia (disorder) |
28574005 | Congenital anomaly of coronary artery (disorder) |
286071000119109 | Congenital peripheral pulmonary artery stenosis (disorder) |
286331000119109 | Total anomalous pulmonary venous connection to coronary sinus (disorder) |
286341000119100 | Total anomalous pulmonary venous connection to hepatic vein (disorder) |
286351000119103 | Total anomalous pulmonary venous connection to right atrium (disorder) |
286361000119101 | Total anomalous pulmonary venous connection to superior vena cava (disorder) |
28656008 | Congenital insufficiency of aortic valve (disorder) |
28681006 | Metaphyseal chondrodysplasia (disorder) |
28682004 | Congenital duplication of colon (disorder) |
287080001 | Congenital anomaly of nervous system of head/neck (disorder) |
287085006 | Genitourinary congenital anomalies (disorder) |
287087003 | Congenital lordosis/scoliosis (disorder) |
28740008 | Trigonocephaly (disorder) |
28770003 | Polycystic kidney disease, infantile type (disorder) |
288248009 | Congenital bowing of tibia, fibula and femur (disorder) |
28828001 | Gastric atresia (disorder) |
2884008 | Weill-Marchesani syndrome (disorder) |
28861008 | Crouzon syndrome (disorder) |
290006 | Melnick-Fraser syndrome (disorder) |
29052002 | Bilobed right lung (disorder) |
29057008 | Venous anomaly of umbilical cord (disorder) |
29076005 | Meckel-Gruber syndrome (disorder) |
29110005 | Congenital absence of small intestine (disorder) |
29145002 | Schwartz-Jampel syndrome (disorder) |
29155003 | Ectromelia of upper limb (disorder) |
29248006 | Metaphyseal chondrodysplasia, Schmid type (disorder) |
29271008 | Camptodactyly (disorder) |
29307005 | Craniolacunia (disorder) |
29326002 | Ectopic hyperparathyroidism (disorder) |
29328001 | Notomelus (disorder) |
29345006 | Congenital atresia of ejaculatory duct (disorder) |
29352008 | Thanatophoric dysplasia (disorder) |
29375001 | Abnormal number of cusps (disorder) |
294705005 | Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) |
29553002 | Peg-shaped teeth (disorder) |
29581008 | Longitudinal deficiency of tarsal bone (disorder) |
29590001 | Congenital total cataract (disorder) |
29632002 | Congenital atresia of pharynx (disorder) |
29642000 | Congenital adhesions of peritoneum (disorder) |
2965006 | Congenital alopecia (disorder) |
29715005 | Darwin's tubercle (disorder) |
297163001 | Congenital urethral valve (disorder) |
297165008 | Duodenal web (disorder) |
297195000 | Macrodactyly of hand (disorder) |
297218007 | Congenital abnormality of ductus arteriosus (disorder) |
297222002 | Congenital abnormality of vein (disorder) |
297267009 | Retrosternal thyroid gland (disorder) |
29928006 | Congenital insufficiency of mitral valve (disorder) |
29934004 | Anomalous pulmonary venous drainage to coronary sinus (disorder) |
29938001 | Extralobar bronchopulmonary sequestration (disorder) |
29956001 | Myelatelia (disorder) |
29980002 | Congenital malrotation of intestine (disorder) |
30005005 | Porokeratosis of Mibelli, superficial disseminated type (disorder) |
30023002 | Hydranencephaly (disorder) |
30028006 | Spondyloschisis (disorder) |
3004001 | Congenital dilatation of esophagus (disorder) |
302174000 | Congenital abnormality of iris and ciliary body (disorder) |
302297009 | Congenital deformity of foot (disorder) |
302298004 | Congenital rearfoot valgus (disorder) |
302299007 | Congenital forefoot valgus (disorder) |
30248008 | Pygoamorphus (disorder) |
30275001 | Accessory kidney (disorder) |
30278004 | Kundrat's syndrome (disorder) |
30288003 | Ventricular septal defect (disorder) |
302882002 | Hydrocephalus associated with congenital aqueduct stenosis (disorder) |
302943003 | Abnormal number of pulmonary valve cusps (disorder) |
302945005 | Absent blood vessel in umbilical cord (disorder) |
302948007 | Accessory salivary gland or duct (disorder) |
302949004 | Congenital bronchoesophageal fistula without atresia (disorder) |
302951000 | Congenital macrocolon, not aganglionic (disorder) |
302952007 | Congenital fistula of rectum and anus (disorder) |
302954008 | Embryonic cyst of fallopian tube (disorder) |
302956005 | Transverse deficiency of hand (disorder) |
302957001 | Transverse arrest metacarpal second to fifth rays (disorder) |
302958006 | Congenital absence of multiple toes (disorder) |
302959003 | Duplication of lower limb (disorder) |
302961007 | Hereditary splenic hypoplasia (disorder) |
303085006 | Paratubal cyst arising in mesonephric duct (disorder) |
303138003 | Thyroglossal duct anomaly (disorder) |
304068004 | Bilateral cleft lip (disorder) |
30449003 | Talipes calcaneovarus (disorder) |
304576008 | Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency (disorder) |
30468000 | Dolichocolon (disorder) |
305031000119109 | Congenital complete absence of right lower limb (disorder) |
305201000119107 | Congenital subluxation of left hip (disorder) |
305211000119105 | Congenital subluxation of right hip (disorder) |
30526003 | Omocephalus (disorder) |
30592006 | Brachymetatarsia (disorder) |
30620003 | Spina bifida of dorsal region (disorder) |
30652003 | Ehlers-Danlos syndrome, type 3 (disorder) |
306949002 | Laryngeal cleft type I (disorder) |
306950002 | Laryngeal cleft type II (disorder) |
306951003 | Laryngeal cleft type III (disorder) |
306953000 | Laryngeal cleft type IV (disorder) |
3073006 | Ruvalcaba syndrome (disorder) |
307355007 | Congenital athetosis (disorder) |
307359001 | Congenital agenesis of brainstem nuclei (disorder) |
30915001 | Holoprosencephaly sequence (disorder) |
310798000 | Brachydactyly of hand (disorder) |
310800007 | Brachyphalangia of toe (disorder) |
311808009 | Aberrant retroesophageal subclavian artery causing dysphagia lusoria (disorder) |
312005008 | Congenital penoscrotal transposition (disorder) |
31248004 | Epignathus (disorder) |
312514006 | Netherton's syndrome (disorder) |
31290005 | Congenital hydroureter (disorder) |
31291009 | Ectodermal dysplasia-ocular malformation syndrome (disorder) |
313261000119109 | Longitudinal deficiency of left femur (disorder) |
313271000119103 | Longitudinal deficiency of left fibula (disorder) |
313339007 | Multiple epiphyseal dysplasia tarda type IIIa (disorder) |
314270008 | Persistent hyperplastic primary vitreous (disorder) |
31429000 | Cerebral cortical dysgenesis (disorder) |
314508003 | Congenital myogenic ptosis (disorder) |
314786000 | Congenital exotropia (disorder) |
31481000 | Vascular anomaly of umbilical cord (disorder) |
315271000119104 | Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) |
315297006 | Congenital dysgenetic ptosis (disorder) |
31570000 | Congenital atresia of artery (disorder) |
31686000 | Congenital anomaly of lower alimentary tract (disorder) |
31742004 | Arteriohepatic dysplasia (disorder) |
31798004 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder) |
318761000119105 | Progressive diaphyseal dysplasia (disorder) |
31915006 | Congenital deviation of ureter (disorder) |
32003007 | Congenital anomaly of face bones (disorder) |
32113001 | Syndactyly of toes (disorder) |
32194006 | Anomalous pulmonary venous drainage to hepatic veins (disorder) |
32219008 | Craniorachischisis (disorder) |
32232003 | Spina bifida of cervical region (disorder) |
32337007 | Microdontia (disorder) |
32339005 | Longitudinal deficiency of metacarpal bone (disorder) |
32454003 | Congenital anomaly of the thyroid gland (disorder) |
32455002 | Manus extensa (disorder) |
32614006 | Microglossia (disorder) |
32659003 | Congenital hypoplasia of kidney (disorder) |
328011000119101 | Congenital imperforate cervix (disorder) |
32809005 | Congenital anomaly of sclera (disorder) |
328641000119109 | Genetic disorder of surfactant dysfunction (disorder) |
32958008 | Congenital micrognathism (disorder) |
32985001 | Greig cephalopolysyndactyly syndrome (disorder) |
33010005 | Floppy infant syndrome (disorder) |
33076008 | Hemimelia (disorder) |
33225004 | Anorectal anomaly (disorder) |
33229005 | Microphthalmos associated with other anomalies of eye AND/OR adnexa (disorder) |
33257003 | Congenital duplication of digestive organs (disorder) |
33313004 | Radioulnar synostosis (disorder) |
33322003 | Congenital deformity of forehead (disorder) |
33410002 | Marshall syndrome (disorder) |
33494005 | Talipes calcaneus (disorder) |
33504000 | Concrescence of teeth (disorder) |
33521009 | Congenital anomaly of lens shape (disorder) |
33534005 | Congenital bowing of femur (disorder) |
337471007 | Cleft upper lip, upper jaw AND palate (disorder) |
33754009 | Congenital coxa valga (disorder) |
338486003 | Cheilognathouranoschisis (disorder) |
33979003 | Nievergelt's syndrome (disorder) |
33990008 | Ectopic parotid gland tissue (disorder) |
34048007 | Syndactyly of fingers (disorder) |
34111000 | Congenital anomaly of the hand (disorder) |
342831000119100 | Congenital combined form cataract (disorder) |
34424009 | Congenital duplication of vagina (disorder) |
34488005 | Dimelia (disorder) |
34504007 | Mandibular retrognathism (disorder) |
34513009 | Zebra body myopathy (disorder) |
34566007 | Sialic acid storage disease, severe infantile type (disorder) |
34612006 | Pelvis justo major (disorder) |
34638006 | Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) |
34643004 | Diaphyseal dysplasia (disorder) |
34748004 | Adams-Oliver syndrome (disorder) |
34774005 | Congenital absence of bronchus (disorder) |
34821005 | Congenital stenosis of choanae (disorder) |
34911001 | Congenital hypoplasia of penis (disorder) |
35031005 | Hanhart's syndrome (disorder) |
35045004 | Microtia (disorder) |
35082008 | Cervical thymic remnant (disorder) |
35111000119109 | Cystic malformation of posterior fossa (disorder) |
35156002 | Hypoplasia of cementum (disorder) |
35266001 | Congenital duplication of appendix (disorder) |
35272001 | Microphakia (disorder) |
35387008 | Congenital aphakia (disorder) |
35484002 | Aplasia cutis congenita (disorder) |
35520007 | Nager syndrome (disorder) |
35547002 | Polyotia (disorder) |
35555009 | Accessory trachea (disorder) |
35577008 | Holoacardius acephalus (disorder) |
35595006 | Deradelphus (disorder) |
35691006 | Combined deficiency of sialidase AND beta galactosidase (disorder) |
35850006 | Infantile uterus (disorder) |
359531004 | Amegakaryocytic thrombocytopenia with congenital malformation (disorder) |
35962006 | Nevus comedonicus (disorder) |
35964007 | Congenital anomaly of nail (disorder) |
359824007 | Incomplete anencephaly (disorder) |
36010004 | Congenital cerebral meningocele (disorder) |
36025004 | Fibrous skin tumor of tuberous sclerosis (disorder) |
360424008 | Dysplastic ovary (disorder) |
360426005 | Congenital ovarian dysplasia (disorder) |
360429003 | Congenital epiblepharon-inferior oblique syndrome (disorder) |
360430008 | Swan's syndrome II (disorder) |
360431007 | Embedded tooth (disorder) |
360434004 | Aganglionosis of Auerbach's plexus (disorder) |
360441005 | Aganglionosis of colon (disorder) |
360447009 | Mesonephric cyst (disorder) |
360473004 | Congenital muscular subaortic stenosis (disorder) |
360481003 | Common atrioventricular canal (disorder) |
360491009 | Congenital atresia of jejunum (disorder) |
360494001 | Malrotation of the intestine type IIID (disorder) |
360507004 | Chondrodysplasia punctata congenita (disorder) |
360522009 | Congenital epulis of newborn (disorder) |
360525006 | Congenital gingival granular cell tumor (disorder) |
360526007 | Congenital absence of upper limb (disorder) |
360527003 | Diplomyelia (disorder) |
360530005 | Myeloschisis (disorder) |
36079008 | Double cardiac valve orifice (disorder) |
36110001 | Congenital anomaly of pulmonary artery (disorder) |
361146001 | Congenital small renal papilla (disorder) |
361147005 | Congenital hypoplasia of renal papilla (disorder) |
361213004 | Congenital absence of pelvis and lower limb (disorder) |
361263009 | Paravaginal cyst arising in mesonephric duct (disorder) |
361264003 | Congenital arteriovenous fistula of kidney (disorder) |
36133000 | Abnormal position of cardiac valve (disorder) |
36172001 | Congenital subluxation of hip (disorder) |
36193003 | Thalidomide embryopathy syndrome (disorder) |
36233006 | Congenital stenosis of tricuspid valve (disorder) |
362998000 | Branchial cleft anomaly (disorder) |
363024001 | Congenital anomaly of abdomen (disorder) |
363025000 | Congenital anomaly of back (disorder) |
363026004 | Congenital anomaly of body cavity (disorder) |
363027008 | Congenital anomaly of body wall (disorder) |
363028003 | Congenital anomaly of cardiovascular structure of trunk (disorder) |
363029006 | Congenital anomaly of epidermal appendages (disorder) |
363030001 | Congenital anomaly of lower trunk (disorder) |
363031002 | Congenital anomaly of lymphatic structure of trunk (disorder) |
363032009 | Congenital anomaly of musculoskeletal structure of trunk (disorder) |
363034005 | Congenital anomaly of neural structure of trunk (disorder) |
363035006 | Congenital anomaly of thorax (disorder) |
363036007 | Congenital anomaly of tympanic anulus (disorder) |
363037003 | Congenital anomaly of upper trunk (disorder) |
36313005 | Dolichopellic pelvis (disorder) |
363627009 | Parathyromatosis (disorder) |
36376006 | Congenital absence of esophagus (disorder) |
36422005 | Transposition of pulmonary veins (disorder) |
3650004 | Congenital absence of liver (disorder) |
36517007 | Polyostotic fibrous dysplasia of bone (disorder) |
36574005 | Transverse deficiency of lower limb (disorder) |
36601008 | Craniometaphyseal dysplasia (disorder) |
36619004 | Congenital duplication of cystic duct (disorder) |
36631002 | Hepatomphalocele (disorder) |
36659001 | Congenital notching of tip of nose (disorder) |
366961000119106 | Albinism co-occurrent with hematologic disorder (disorder) |
367101000119105 | Congenital malformation of bladder and urethra (disorder) |
367121000119101 | Congenital prolapse of urinary meatus (disorder) |
367462009 | Facio-auriculo-vertebral spectrum (disorder) |
367468008 | Congenital atresia of nares (disorder) |
367489004 | Infantile malignant osteopetrosis (disorder) |
367506006 | Polydactyly (disorder) |
367520004 | Incontinentia pigmenti syndrome (disorder) |
36752001 | Congenital splenomegaly (disorder) |
36775008 | Displaced ureteric orifice (disorder) |
3680009 | Monocephalus tripus dibrachius (disorder) |
3699000 | Transverse deficiency of upper limb (disorder) |
370480003 | Hepatoportal microvascular dysplasia (disorder) |
370481004 | Transitional vertebra (disorder) |
370483001 | Mittendorf's dot (disorder) |
3705009 | Congenital anomaly of anterior chamber of eye (disorder) |
37054000 | Congenital atresia of colon (disorder) |
370966000 | Congenital anomaly of endocrine ovary (disorder) |
371015003 | Congenital absence of both testes (disorder) |
37104009 | Congenital enlargement of coronary sinus (disorder) |
371076006 | Congenital syringomyelia (disorder) |
371080001 | Congenital leg length discrepancy (disorder) |
371118004 | Congenital anomaly of endocrine gonad (disorder) |
371122009 | Congenital anomaly of endocrine testis (disorder) |
371189003 | Bilateral acheiria (disorder) |
371191006 | Bilateral congenital absence of feet (disorder) |
371197005 | Congenital absence of foot (disorder) |
371199008 | Congenital absence of hand (disorder) |
371629001 | Congenital dislocation of elbow (disorder) |
37221009 | Congenital absence of all toes (disorder) |
37281006 | Cyclops hypognathus (disorder) |
3733009 | Congenital eventration of right crus of diaphragm (disorder) |
373413006 | Syndactyly (disorder) |
373427001 | Congenital bony fusion of phalanges (disorder) |
373583002 | Congenital obstructive megaureter (disorder) |
373587001 | Chiari malformation type II (disorder) |
373637000 | Congenital vesicoureterorenal reflux (disorder) |
373643003 | Cleft lip and alveolus (disorder) |
373650004 | Hypoplasia of optic disc (disorder) |
373661007 | Optic disc structural anomaly (disorder) |
37373007 | Meckel's diverticulum (disorder) |
373905003 | Jervell and Lange-Nielsen syndrome (disorder) |
37404003 | Failure of rotation of colon (disorder) |
37528004 | Malrotation of cecum (disorder) |
37548006 | Hypopigmentation-immunodeficiency disease (disorder) |
37639005 | Anomalous pulmonary venous drainage to right atrium (disorder) |
37687000 | Congenital absence of cervix (disorder) |
37767008 | Congenital deformity of wall of nasal sinus (disorder) |
3783004 | Enamel pearls (disorder) |
37849005 | Congenital uterine anomaly (disorder) |
37939008 | Congenital anomaly of the bladder (disorder) |
37975005 | Accessory ovary (disorder) |
38164009 | Congenital anomaly of integument (disorder) |
38215007 | Oculodentodigital syndrome (disorder) |
38296007 | Congenital anomaly of ovary (disorder) |
38353004 | Congenital porencephaly (disorder) |
38371006 | Poland anomaly (disorder) |
38385001 | Persistent left posterior cardinal vein (disorder) |
38437003 | Uterus arcuatus (disorder) |
38439000 | Cranial duplication (disorder) |
3845008 | Congenital duplication of intestine (disorder) |
38494008 | Langer mesomelic dysplasia syndrome (disorder) |
385482004 | Osteogenesis imperfecta type I (disorder) |
385483009 | Osteogenesis imperfecta type III (disorder) |
386120007 | Imperforate vagina (disorder) |
38632003 | Pharyngeal pituitary tissue (disorder) |
387732009 | Becker muscular dystrophy (disorder) |
38776003 | Congenital absence of skeletal muscle (disorder) |
38824008 | Congenital anomaly of the thymus (disorder) |
38827001 | Congenital fusion of spine (disorder) |
38856001 | Congenital anomaly of appendix (disorder) |
38859008 | Syndactyly of toes with fusion of bones (disorder) |
388981000 | Congenital dystrophia brevicollis (disorder) |
389157002 | Thanatophoric dysplasia, type 1 (disorder) |
389158007 | Thanatophoric dysplasia, type 2 (disorder) |
389159004 | Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) |
389160009 | Spondyloepiphyseal dysplasia with joint laxity (disorder) |
389161008 | Sponastrime dysplasia (disorder) |
389162001 | Acroscyphodysplasia (disorder) |
389163006 | Metaphyseal chondrodysplasia, Sedaghatian type (disorder) |
389165004 | Brachyolmia - Maroteaux type (disorder) |
389166003 | Trichorhinophalangeal dysplasia type III (disorder) |
389167007 | Hunter-Thompson dysplasia (disorder) |
389168002 | Brachydactyly syndrome type B (disorder) |
389169005 | Brachydactyly syndrome type C (disorder) |
389170006 | Precocious osteodysplasty (disorder) |
389171005 | Yunis-Varon dysplasia (disorder) |
38919006 | Congenital absence of auricle with atresia of auditory canal (disorder) |
389191003 | Osteoplastic dysplasia (disorder) |
389193000 | Osteodysplastic dysplasia, type I (disorder) |
389195007 | Osteodysplastic dysplasia, type II (disorder) |
389199001 | Cole-Carpenter dysplasia (disorder) |
389207000 | Mixed sclerosing bone dysplasia (disorder) |
389214003 | Diaphyseal dysplasia with anemia (disorder) |
389216001 | Diaphyseal medullary stenosis with bone malignancy (disorder) |
389236000 | Neonatal osteosclerotic dysplasia (disorder) |
389237009 | Blomstrand dysplasia (disorder) |
389239007 | Raine dysplasia (disorder) |
389260001 | Lethal chondrodysplasia with fragmented bone (disorder) |
389261002 | Greenberg dysplasia (disorder) |
389262009 | Dappled diaphyseal dysplasia (disorder) |
389263004 | Astley-Kendall dysplasia (disorder) |
389264005 | Genochondromatosis (disorder) |
389268008 | Spondyloenchondromatosis (disorder) |
389271000 | Spondyloenchondromatosis with basal ganglia calcification (disorder) |
389272007 | Carpotarsal osteochondromatosis (disorder) |
389273002 | Cherubism with gingival fibromatosis (disorder) |
389274008 | Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) |
389276005 | Congenital dysplasia of patella (disorder) |
389277001 | Scypho-patellar dysplasia (disorder) |
38993008 | Tricho-dento-osseous syndrome (disorder) |
38998004 | Brachyphalangia (disorder) |
39150004 | Congenital anomaly of spinal meninges (disorder) |
391982004 | Congenital pectus excavatum (disorder) |
392437005 | Posterior embryotoxon (disorder) |
392461003 | Congenital ectopic pupil (disorder) |
39302008 | Fundus coloboma (disorder) |
39401000 | Dolichocephalic dwarfism (disorder) |
39427000 | Pachyonychia congenita syndrome (disorder) |
39476006 | Congenital stricture of rectum (disorder) |
394910004 | Congenital malformation of thumb (disorder) |
39513007 | Congenital atresia of vas deferens (disorder) |
39540007 | Congenital depression in skull (disorder) |
39564008 | Monocephalus (disorder) |
395693008 | Congenital positional talipes (disorder) |
39574006 | Congenital hypoplasia of inner granular layer of cerebellum (disorder) |
39589002 | Hypoplasia of right heart (disorder) |
3961000119101 | Relative macrocephaly (disorder) |
39719008 | Transposition of intestine (disorder) |
397433001 | Congenital tracheal collapse (disorder) |
397868007 | Choledochocele (disorder) |
39788007 | Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) |
397894003 | Congenital pericardial defect (disorder) |
397932003 | Talipes equinovarus (disorder) |
398071000 | Epidermolysis bullosa simplex, Ogna type (disorder) |
398114001 | Ehlers-Danlos syndrome (disorder) |
398170002 | Autosomal dominant epidermolysis bullosa simplex (disorder) |
398206004 | Congenital deformity of face (disorder) |
398302004 | Congenital anomaly of face (disorder) |
398316009 | Patent urachus (disorder) |
398696001 | Congenital pigmented melanocytic nevus (disorder) |
3987009 | Congenital absence of trachea (disorder) |
398719004 | Chondrodysplasia punctata, Conradi-Hünermann type (disorder) |
398943008 | Congenital pigmented melanocytic nevus of skin (disorder) |
398958000 | Chondrodysplasia punctata, X-linked dominant type (disorder) |
399045007 | Juvenile fucosidosis (disorder) |
399046008 | L - transposition of the great vessels (disorder) |
39905002 | Scimitar syndrome (disorder) |
399091004 | Facioscapulohumeral muscular dystrophy (disorder) |
399216004 | D - transposition of the great vessels (disorder) |
399228007 | Tetralogy of Fallot with absent pulmonary valve (disorder) |
399249008 | Adult fucosidosis (disorder) |
39987008 | Congenital absence of right pulmonary artery (disorder) |
399882002 | Cystic hygroma (disorder) |
399955009 | Diffuse palmoplantar keratoderma of Thost-Unna (disorder) |
399960008 | Congenital hamartoma (disorder) |
399971009 | Junctional epidermolysis bullosa (disorder) |
399974001 | Ectodermal dysplasia with tooth-nail-sweating defect (disorder) |
400014002 | Hereditary benign intraepithelial dyskeratosis (disorder) |
400017009 | Mixed vascular malformation (disorder) |
400018004 | Acrokeratosis verruciformis of Darier disease (disorder) |
400036004 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) |
400038003 | Congenital malformation syndrome (disorder) |
400042000 | Cutaneous vascular malformation (disorder) |
400043005 | Keratosis rubra pilaris (disorder) |
400059005 | Keratosis pilaris atrophicans (disorder) |
400083002 | Congenital hamartoma of skin (disorder) |
400085009 | Acrokeratosis verruciformis of Hopf (disorder) |
400123002 | Hereditary diffuse palmoplantar keratoderma (disorder) |
400126005 | Ulerythema ophryogenes (disorder) |
400128006 | Lethal tight skin contracture syndrome (disorder) |
400140006 | Junctional epidermolysis bullosa gravis of Herlitz (disorder) |
400159008 | Congenital vascular malformation (disorder) |
40028009 | Congenital hyperplasia of intrahepatic bile duct (disorder) |
40052002 | Congenital anomaly of neck (disorder) |
400946004 | Congenital fibrosis syndrome (disorder) |
400947008 | Congenital fibrosis of inferior rectus muscle (disorder) |
400951005 | Cryptophthalmos (disorder) |
400952003 | Ankyloblepharon filiforme adnatum (disorder) |
400953008 | Congenital tarsal kink (disorder) |
400954002 | Euryblepharon (disorder) |
400962005 | Congenital miosis (disorder) |
400965007 | Congenital iris ectropion (disorder) |
401046009 | Nicolaides-Baraitser syndrome (disorder) |
401138005 | Pena-Shokeir syndrome type I (disorder) |
40130009 | Spina bifida without hydrocephalus (disorder) |
401315004 | Smith-Magenis syndrome (disorder) |
40158001 | Papillon-Lefèvre syndrome (disorder) |
40159009 | Congenital macrostomia (disorder) |
40193008 | Single vessel of umbilical cord (disorder) |
40210001 | Floating liver (disorder) |
402704005 | Developmental anomaly of vitelline duct (disorder) |
40272001 | Congenital absence of coronary sinus (disorder) |
402770002 | Autosomal dominant ichthyosis (disorder) |
402772005 | Autosomal recessive ichthyosis (disorder) |
402773000 | Punctate palmoplantar keratoderma (disorder) |
402774006 | Genetic defect of hair shaft (disorder) |
402808004 | Congenital vascular malformation due to inherited syndrome (disorder) |
402809007 | Congenital malformation of cutaneous lymphatics (disorder) |
402810002 | Developmental malformation of branchial arch (disorder) |
40291001 | Mietens syndrome (disorder) |
40315008 | Annular pancreas (disorder) |
40320008 | Double auditory canal (disorder) |
403281007 | Congenital onychodysplasia of index fingers (disorder) |
403369005 | Fordyce spots of buccal mucosa (disorder) |
403438007 | Congenital lower lip pits (disorder) |
403442005 | Hereditary mucoepithelial dysplasia (disorder) |
403460005 | Patent vitelline duct (disorder) |
403461009 | Vitelline duct polyp (disorder) |
403532006 | Hypertrichosis with congenital macrogingivae (disorder) |
403533001 | Vertical alopecia (disorder) |
403534007 | Sutural alopecia (disorder) |
403535008 | Triangular alopecia (disorder) |
403540000 | Congenital pigmented nevus with atypical melanocytic proliferation (disorder) |
40354009 | De Lange syndrome (disorder) |
403544009 | Port-wine stain with associated anomalies (disorder) |
403545005 | Port-wine stain with oculocutaneous melanosis (disorder) |
403546006 | Lymphangiomatosis (disorder) |
403547002 | Segmental lymphangiomatosis (disorder) |
403548007 | Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) |
403549004 | Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) |
403550004 | Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) |
403551000 | Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) |
403552007 | Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) |
403553002 | Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) |
403554008 | Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder) |
403556005 | Constricting band of extremity (disorder) |
403557001 | Midline cervical cleft (disorder) |
403559003 | Cutaneous lesion resulting from spinal dysraphism (disorder) |
403560008 | Port-wine stain associated with spinal dysraphism (disorder) |
403561007 | Cutaneous lesion resulting from spina bifida (disorder) |
403562000 | Rudimentary digit (disorder) |
403756008 | Aplasia cutis in Trisomy 13 syndrome (disorder) |
403757004 | Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) |
403762003 | Odonto-onycho-dermal dysplasia (disorder) |
403763008 | Aplasia cutis in Johanson-Blizzard syndrome (disorder) |
403764002 | Odontomicronychial ectodermal dysplasia (disorder) |
403765001 | Port-wine stain in Rubinstein-Taybi syndrome (disorder) |
403766000 | Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
403767009 | Acrocephalopolysyndactyly type II (disorder) |
403768004 | Acrocephalopolysyndactyly type III (disorder) |
403769007 | Cardio-acral-facial syndrome (disorder) |
403770008 | Cardio-facio-cutaneous syndrome (disorder) |
403772000 | Cleft palate lateral synechia syndrome (disorder) |
403773005 | Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) |
403775003 | Hereditary neurocutaneous angiomata (disorder) |
403777006 | Lamellar ichthyosis (limited type) (disorder) |
403778001 | X-linked dominant chondrodysplasia punctata of Happle (disorder) |
403779009 | Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) |
403780007 | Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
403781006 | Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) |
403782004 | Ichthyosis follicularis with alopecia and photophobia (disorder) |
403783009 | Flexural Darier's disease (disorder) |
403784003 | Hypertrophic Darier's disease (disorder) |
403785002 | Linear/nevoid/zosteriform Darier's disease (disorder) |
403786001 | Acral Darier's disease (disorder) |
403787005 | Palmar pitting due to Darier's disease (disorder) |
403788000 | Nail dystrophy due to Darier's disease (disorder) |
403790004 | Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) |
403792007 | Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) |
403794008 | Autosomal dominant familial wooly hair (disorder) |
403795009 | Autosomal recessive familial wooly hair (disorder) |
403796005 | Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder) |
403798006 | Atrichia congenita (disorder) |
403799003 | Congenital hypertrichosis lanuginosa (disorder) |
403801000 | Pachyonychia congenita type II of Jackson-Lawler (disorder) |
403802007 | Pachyonychia congenita type III of Schafer-Brunauer (disorder) |
403805009 | Albinism-deafness syndrome of Tietz (disorder) |
403806005 | Ziprkowski-Margolis syndrome (disorder) |
403807001 | Phylloid hypomelanosis (disorder) |
403808006 | Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) |
403809003 | Dystrophic epidermolysis bullosa inverse type (disorder) |
403810008 | Epidermolysis bullosa pruriginosa (disorder) |
403813005 | Localized congenital cutis laxa (disorder) |
403815003 | Axillary freckling due to neurofibromatosis (disorder) |
403816002 | Multiple café-au-lait macules due to neurofibromatosis (disorder) |
403817006 | Multiple neurofibromas in neurofibromatosis (disorder) |
403819009 | Elephantiasis neurofibromatosa (disorder) |
403820003 | Café-au-lait macules with pulmonary stenosis (disorder) |
403821004 | Café-au-lait macules with temporal dysrhythmia (disorder) |
403822006 | Familial multiple café-au-lait macules without neurofibromatosis (disorder) |
403855001 | Congenital anomaly of digit (disorder) |
403856000 | Port-wine stain in proteus syndrome (disorder) |
4041005 | Congenital anomaly of macula (disorder) |
40467008 | Mongolian spot (disorder) |
405752007 | Congenital atrial septal defect (disorder) |
40627003 | Congenital absence of vein (disorder) |
406476007 | Epispadias (disorder) |
406477003 | Epispadias, male (disorder) |
40888008 | Congenital anomaly of the hematopoietic system (disorder) |
40929003 | Nevus anemicus (disorder) |
410060009 | Hydrencephalomeningocele (disorder) |
410065004 | Congenital anomaly of aortic arch AND/OR descending aorta (disorder) |
410066003 | Congenital anomaly in number of teeth (disorder) |
41049003 | Holoacardius amorphus (disorder) |
41060007 | Pre-eruptive color change of tooth (disorder) |
41069008 | Langer-Giedion syndrome (disorder) |
41132007 | Dicephalus tripus tribrachius (disorder) |
412787009 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) |
41279003 | Congenital esophagobronchial fistula (disorder) |
41283003 | Cerebro-oculo-facio-skeletal syndrome (disorder) |
413221004 | Ectopic gastric mucosa - multiple sites (disorder) |
413255001 | Pancreas divisum - complete (disorder) |
413256000 | Pancreas divisum - incomplete (disorder) |
41337007 | Conjoined twins (disorder) |
4135001 | 11p partial monosomy syndrome (disorder) |
4136000 | Macrodactyly of toe (disorder) |
413678004 | Bohn's nodule (disorder) |
41371000119100 | Shone complex (disorder) |
413905004 | Congenital absence of heart structure (disorder) |
413906003 | Congenital failure of fusion between maxillary and mandibular processes (disorder) |
414063002 | Duane syndrome with vertical deviation (disorder) |
414116002 | Epstein's pearl of palate (disorder) |
414342007 | Gingival cyst of neonate (disorder) |
41443008 | Multiple malformation syndrome with limb defect as major feature (disorder) |
41452004 | Uterus acollis (disorder) |
41483000 | Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) |
41495000 | Disseminated superficial actinic porokeratosis (disorder) |
41514002 | Congenital supravalvular mitral stenosis (disorder) |
41517009 | Congenital hypertrophy of sphenoid bone (disorder) |
415713009 | Thoracic hydromeningocele (disorder) |
415810004 | Varices of umbilical cord (disorder) |
4160001 | Congenital anomaly of upper respiratory system (disorder) |
416010008 | Hypospadias (disorder) |
41620007 | Congenital anomaly of lacrimal gland (disorder) |
416377005 | Port-wine stain of skin (disorder) |
41656005 | Leri's pleonosteosis syndrome (disorder) |
416671000 | Microspherophakia (disorder) |
416792008 | Vein of Galen malformation (disorder) |
416834004 | Epicapsular star (disorder) |
4170004 | Ehlers-Danlos syndrome, procollagen proteinase resistant (disorder) |
417161008 | Supernumerary canaliculus (disorder) |
41729002 | Horseshoe kidney (disorder) |
417604002 | Axenfeld-Rieger syndrome (disorder) |
417658006 | Holoanencephaly (disorder) |
418087009 | Congenital absence of lacrimal drainage structure (disorder) |
4184009 | Congenital anomaly of endocrine gland (disorder) |
418653000 | Secondary lens coloboma (disorder) |
41878001 | Symbrachydactyly (disorder) |
41893002 | Left ventricular-right atrial communication (disorder) |
41895009 | Longitudinal deficiency of carpal bone (disorder) |
419281007 | Lentiglobus (disorder) |
419496009 | Congenital corneal keloid (disorder) |
4195003 | Congenital duplication of anus (disorder) |
419544009 | Primary lens coloboma (disorder) |
41962002 | Oligohydramnios sequence (disorder) |
420049001 | Congenital abnormality of lacrimal drainage system (disorder) |
42162004 | Congenital varus deformity of foot (disorder) |
42183005 | Pseudohypoparathyroidism type II (disorder) |
42190000 | Congenital absence of abdominal muscle (disorder) |
422348008 | Andersen Tawil syndrome (disorder) |
422474003 | Partial absence of septum pellucidum (disorder) |
422731002 | Dysgenesis of lacrimal punctum (disorder) |
42283001 | Cochleate uterus (disorder) |
422977003 | Congenital anomaly of tooth (disorder) |
423095007 | Congenital plagiocephaly with pelvic obliquity (disorder) |
42324007 | Congenital duplication of cecum (disorder) |
423368008 | Congenital pelvic obliquity (disorder) |
423462008 | Dural carotid cavernous fistula (disorder) |
42376006 | Occipital encephalocele (disorder) |
42402006 | Kartagener syndrome (disorder) |
424045003 | Myocardial bridge of coronary artery (disorder) |
42432003 | Oto-palato-digital syndrome, type II (disorder) |
424728002 | Prepapillary vascular loop (disorder) |
425687007 | Spina bifida aperta of cervical spine (disorder) |
42618007 | Congenital atresia of fallopian tube (disorder) |
42666000 | Congenital anomaly of tracheal cartilage (disorder) |
42681006 | Islet cell hyperplasia (disorder) |
427199002 | Congenital arteriovenous malformation of small intestine (disorder) |
427216002 | Spina bifida aperta of thoracic spine (disorder) |
42725006 | Achondrogenesis, type IA (disorder) |
42780004 | Congenital lobulation of spleen (disorder) |
427944007 | Congenital asymmetry of forehead (disorder) |
42808000 | Longitudinal deficiency of tibia (disorder) |
428522008 | Congenital anomaly of male urogenital tract (disorder) |
428543009 | Congenital vascular malformation of lip (disorder) |
428680008 | Congenital female urogenital anomaly (disorder) |
428862002 | Congenital flat back deformity (disorder) |
429191000124106 | Partial duplication of ureter (disorder) |
429304004 | Congenital vascular malformation of orbit (disorder) |
429448005 | Congenital anomaly of anterior segment of eye (disorder) |
429449002 | Congenital hypoplasia of fovea centralis (disorder) |
429466000 | Spina bifida aperta of lumbar spine (disorder) |
429631000124104 | Glanular hypospadias (disorder) |
429641000124109 | Coronal hypospadias (disorder) |
429651000124106 | Penile shaft hypospadias (disorder) |
429661000124108 | Penile mid-shaft hypospadias (disorder) |
429681000124103 | Covered exstrophy of bladder (disorder) |
429753001 | Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) |
429967001 | Cryptotia (disorder) |
430091000124101 | Primary right vesicoureteral reflux (disorder) |
430101000124107 | Primary right vesicoureteral reflux grade 1 (disorder) |
430111000124105 | Primary right vesicoureteral reflux grade 1 measured by radionuclide cystogram (disorder) |
430121000124102 | Primary right vesicoureteral reflux grade 2 (disorder) |
430131000124104 | Primary right vesicoureteral reflux grade 3 (disorder) |
430141000124109 | Primary right vesicoureteral reflux grade 4 (disorder) |
430151000124106 | Primary right vesicoureteral reflux grade 5 (disorder) |
430161000124108 | Primary right vesicoureteral reflux grade 2 measured by radionuclide cystogram (disorder) |
430166008 | Congenital anomaly of peripheral blood vessel (disorder) |
430171000124101 | Primary right vesicoureteral reflux grade 3 measured by radionuclide cystogram (disorder) |
430181000124103 | Primary right vesicoureteral reflux grade 1 measured by voiding cystourethrography (disorder) |
430191000124100 | Primary right vesicoureteral reflux grade 2 measured by voiding cystourethrography (disorder) |
430201000124102 | Primary right vesicoureteral reflux grade 3 measured by voiding cystourethrography (disorder) |
430211000124104 | Primary right vesicoureteral reflux grade 4 measured by voiding cystourethrography (disorder) |
430221000124107 | Primary right vesicoureteral reflux grade 5 measured by voiding cystourethrography (disorder) |
430231000124105 | Primary left vesicoureteral reflux (disorder) |
430241000124100 | Primary left vesicoureteral reflux grade 1 (disorder) |
430251000124103 | Primary left vesicoureteral reflux grade 2 (disorder) |
430261000124101 | Primary left vesicoureteral reflux grade 3 (disorder) |
430271000124108 | Primary left vesicoureteral reflux grade 4 (disorder) |
430281000124106 | Primary left vesicoureteral reflux grade 5 (disorder) |
430291000124109 | Primary left vesicoureteral reflux grade 1 measured by radionuclide cystogram (disorder) |
430301000124105 | Primary left vesicoureteral reflux grade 2 measured by radionuclide cystogram (disorder) |
430311000124108 | Primary left vesicoureteral reflux grade 3 measured by radionuclide cystogram (disorder) |
430321000124100 | Primary left vesicoureteral reflux grade 1 measured by voiding urethrocystography (disorder) |
430331000124102 | Primary left vesicoureteral reflux grade 2 measured by voiding urethrocystography (disorder) |
430341000124107 | Primary left vesicoureteral reflux grade 3 measured by voiding urethrocystography (disorder) |
430351000124109 | Primary left vesicoureteral reflux grade 4 measured by voiding urethrocystography (disorder) |
43036001 | Ectromelia (disorder) |
430361000124106 | Primary left vesicoureteral reflux grade 5 measured by voiding urethrocystography (disorder) |
43039008 | Mesatipellic pelvis (disorder) |
43063000 | Congenital atresia of osseous meatus of middle ear (disorder) |
430686008 | Spinal dysgenesis (disorder) |
430711000124109 | Subcortical nodular heterotopia (disorder) |
4313003 | Acardiacus anceps (disorder) |
431395004 | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) |
43152001 | Central core disease (disorder) |
43162008 | Ectopic tooth (disorder) |
43176009 | Congenital hypoplasia of tricuspid valve (disorder) |
431768007 | Congenital malformation of sphenoid wing (disorder) |
431770003 | Fetal macrocephaly (disorder) |
431781000124107 | Bilateral intra-abdominal testes (disorder) |
432111000124106 | Narcotic embryopathy (disorder) |
43226001 | Sarcotubular myopathy (disorder) |
432293006 | Congenital anomaly of blood vessel of upper limb (disorder) |
432461000 | Congenital anomaly of renal blood vessel (disorder) |
432993002 | Congenital absence of quadriceps muscle (disorder) |
43353004 | Congenital anomaly of inner ear (disorder) |
43383008 | Congenital diverticulum of bronchus (disorder) |
43387009 | Fetus in fetu (disorder) |
434171000124106 | Persistent urogenital sinus, high confluence (disorder) |
434181000124109 | Persistent urogenital sinus, low confluence (disorder) |
43427008 | Ectopic glial tissue (disorder) |
434271000124104 | Congenital obstructive megaureter without reflux (disorder) |
43437003 | Submucous cleft of hard palate (disorder) |
43476002 | Brachydactyly (disorder) |
43557002 | Congenital stricture of external auditory canal (disorder) |
4374004 | Congenital anomaly of tricuspid valve (disorder) |
43814000 | Atelosteogenesis (disorder) |
438401000124104 | Palpable undescended testicle (disorder) |
438504004 | Lenz microphthalmia syndrome (disorder) |
438583008 | Congenital bilateral perisylvian syndrome (disorder) |
43876007 | Situs inversus viscerum (disorder) |
43910005 | Congenital hypoplasia of aorta (disorder) |
439258003 | Deformity of toe due to amniotic band (disorder) |
43929004 | Smith-Lemli-Opitz syndrome (disorder) |
440092001 | Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) |
440350001 | Fibroblast growth factor receptor 3-related craniosynostosis (disorder) |
440391004 | Congenital deformity of scapula (disorder) |
4406004 | Congenital anomaly of male genital system (disorder) |
440624006 | Deformity of digit of hand due to amniotic band (disorder) |
441686004 | Delta phalanx of finger (disorder) |
441944007 | Oto-onycho-peroneal syndrome (disorder) |
442300000 | Rhombencephalosynapsis (disorder) |
44231009 | Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) |
44295002 | Congenital coloboma of optic disc (disorder) |
44315004 | Congenital absence of auricle with stenosis of auditory canal (disorder) |
443379009 | Functional single ventricle (disorder) |
4434006 | Bloom syndrome (disorder) |
44444001 | Longitudinal deficiency of ulna (disorder) |
444550009 | Developmental anomaly of odontoid process of axis (disorder) |
444667006 | Congenital deformity of pharynx (disorder) |
444844007 | Congenital aplasia of odontoid process (disorder) |
444851003 | Bifid apex of heart (disorder) |
444961009 | Atrioventricular septal defect with common atrioventricular orifice (disorder) |
444964001 | Lungs in mirror image arrangement (disorder) |
445001003 | Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder) |
445002005 | Atrioventricular septal defect with separate atrioventricular orifices (disorder) |
445003000 | Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder) |
445027003 | Left superior caval vein persisting to coronary sinus (disorder) |
445106006 | Congenital dilation of left pulmonary artery (disorder) |
445109004 | Isolation of left common carotid artery (disorder) |
445116003 | Encephalocele of vertex (disorder) |
44513007 | Congenital anomaly of the kidney (disorder) |
445131007 | Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder) |
445167000 | Congenital dilation of right pulmonary artery (disorder) |
445175006 | Symbrachydactyly of toe (disorder) |
445176007 | Congenital dilation of ascending aorta (disorder) |
44518003 | Celosomus (disorder) |
445208002 | Congenital hypoplasia of right pulmonary artery (disorder) |
445209005 | Congenital hypoplasia of left pulmonary artery (disorder) |
445216006 | Polydactyly of thumb (disorder) |
445235006 | Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder) |
445257004 | Nance-Horan syndrome (disorder) |
445264002 | Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) |
445268004 | Apex of heart anterior to cardiac base (disorder) |
445270008 | Aortic orifice left side by side with respect to pulmonary orifice (disorder) |
445294008 | Common atrioventricular orifice in double inlet ventricle (disorder) |
445296005 | Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) |
445298006 | Aortic orifice anterior with respect to pulmonary orifice (disorder) |
445299003 | Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) |
445306000 | Cleft of alveolar ridge (disorder) |
445307009 | Spina bifida of sacral region (disorder) |
445308004 | Split spinal cord malformation (disorder) |
445310002 | Left ventricular outflow tract obstruction due to diaphragm (disorder) |
445330003 | Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) |
445334007 | Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) |
445338005 | Testicular dysgenesis syndrome (disorder) |
445349004 | Isolation of right common carotid artery (disorder) |
445350004 | Isolation of left subclavian artery (disorder) |
445351000 | Isolation of right subclavian artery (disorder) |
445371009 | Infracardiac location of anomalous pulmonary venous connections to inferior caval vein (disorder) |
445373007 | Aortic orifice posterior with respect to pulmonary orifice (disorder) |
445435009 | Apex of heart posterior to cardiac base (disorder) |
445436005 | Left superior caval vein persisting to left sided atrium (disorder) |
445453003 | Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) |
445454009 | Left ventricular outflow tract obstruction due to atrioventricular valve (disorder) |
445486004 | Congenital malformation of blood vessel of orbit proper (disorder) |
44553005 | Dubin-Johnson syndrome (disorder) |
445543002 | Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) |
445554007 | Congenital asymmetry of tonsils (disorder) |
445607003 | Aortic orifice posterior left with respect to pulmonary orifice (disorder) |
445636003 | Aortic orifice anterior right with respect to pulmonary orifice (disorder) |
445650008 | Aortic orifice anterior left with respect to pulmonary orifice (disorder) |
445898001 | Abnormal atrial arrangement (disorder) |
445928005 | Eisenmenger's syndrome (disorder) |
44593008 | Orbital separation diminished (disorder) |
44621005 | Congenital anomaly of organ of Corti (disorder) |
44622003 | Congenital hypoplasia of umbilical artery (disorder) |
446326008 | Premature restriction of foramen ovale (disorder) |
446432002 | Pulmonary venous hypoplasia (disorder) |
44647001 | Persistent hyaloid artery (disorder) |
4465002 | Spherophakia (disorder) |
446656007 | Mirror image bronchial anatomy (disorder) |
446657003 | Criss-cross heart with rightward rotation (disorder) |
446659000 | Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) |
446667008 | Two atrioventricular valves in double inlet ventricle (disorder) |
446670007 | Aortic orifice right side by side with respect to pulmonary orifice (disorder) |
446909006 | Midline apex of heart (disorder) |
446916007 | Functionally univentricular heart (disorder) |
44697002 | Melorheostosis (disorder) |
447085008 | Functionally congenital single lung (disorder) |
447269006 | Persistent common pulmonary vein (disorder) |
447275002 | Alveolar capillary dysplasia with pulmonary venous misalignment (disorder) |
447283008 | Solitary ventricle of indeterminate morphology (disorder) |
447284002 | Double outlet right ventricle with intact ventricular septum (disorder) |
447285001 | Ventricular imbalance (disorder) |
447286000 | Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) |
447289007 | Criss-cross heart with leftward rotation (disorder) |
447415007 | Median raphe cyst of penis (disorder) |
447660003 | Retroaortic brachiocephalic vein (disorder) |
447661004 | Diverticulum of coronary sinus (disorder) |
447663001 | Pulmonary venous confluence remote from left atrium (disorder) |
447664007 | Partial anomalous pulmonary venous connection of part of left lung (disorder) |
447665008 | Interatrial communication through coronary sinus orifice (disorder) |
447666009 | Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium (disorder) |
447667000 | Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium (disorder) |
447668005 | Discontinuous pulmonary arteries (disorder) |
447669002 | Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) |
447670001 | Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) |
447671002 | Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) |
447672009 | Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
447673004 | Right ventricle to left of left ventricle (disorder) |
447674005 | Right bronchial isomerism (disorder) |
447681003 | Continuity between mitral valve and pulmonary valve (disorder) |
447683000 | Discontinuity between mitral valve and pulmonary valve (disorder) |
447691009 | Pulmonary venous confluence in direct proximity to left atrium (disorder) |
447696004 | Unicommissural unicuspid aortic valve (disorder) |
447697008 | Unicommissural unicuspid pulmonary valve (disorder) |
447698003 | Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) |
447700007 | Distal aortopulmonary window with minimal superior rim (disorder) |
447701006 | Intermediate aortopulmonary window with adequate superior and inferior rim (disorder) |
447702004 | Confluent aortopulmonary window with minimal superior and inferior rim (disorder) |
447703009 | Double aortic arch with left arch dominant and coarctation of right arch (disorder) |
447772003 | Persisting fifth aortic arch with double barrell arch (disorder) |
447773008 | Proximal aortopulmonary window with minimal inferior rim (disorder) |
447774002 | Congenital midvalvar ring of mitral leaflet (disorder) |
447780005 | Restrictive interatrial communication with obligatory shunt (disorder) |
447810006 | Congenital stenosis of trachea due to complete rings (disorder) |
447811005 | Congenital stenosis of trachea due to tracheal web (disorder) |
447812003 | Left superior vena cava persisting to right atrium and left atrium (disorder) |
447813008 | Pulmonary venous confluence in horizontal orientation (disorder) |
447814002 | Pulmonary venous confluence in vertical orientation (disorder) |
447821002 | Congenital posterolateral diaphragmatic hernia (disorder) |
447822009 | Congenital prolapse of aortic valve (disorder) |
447823004 | Congenital abnormality of hepatic vein (disorder) |
447824005 | Congenital abnormality of left atrium (disorder) |
447825006 | Congenital abnormality of middle cardiac vein (disorder) |
447827003 | Partial anomalous pulmonary venous connection of entire right lung (disorder) |
447829000 | Congenital abnormality of tricuspid chordae tendinae (disorder) |
447830005 | Congenital abnormality of tricuspid leaflet (disorder) |
447832002 | Total anomalous pulmonary venous connection of supracardiac type (disorder) |
447838003 | Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder) |
447839006 | Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder) |
447845003 | Right ventricle posterior to left ventricle (disorder) |
447849009 | Double aortic arch with right arch dominant and atresia of left arch (disorder) |
447850009 | Double aortic arch with right arch dominant and coarctation of left arch (disorder) |
447851008 | Congenital tracheoesophageal fistula with esophageal stenosis (disorder) |
447852001 | Ventricular septal defect of inlet of right aspect of ventricular septum (disorder) |
447860000 | Partial anomalous pulmonary venous connection of part of right lung (disorder) |
447861001 | Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence (disorder) |
447874007 | Congenital abnormality of atrial septum (disorder) |
447876009 | Congenital aneurysm of subaortic left ventricle (disorder) |
447901004 | Aortopulmonary window with tubular connection (disorder) |
447902006 | Atresia of left superior vena cava (disorder) |
447903001 | Coarctation of right pulmonary artery (disorder) |
447913009 | Completely unroofed coronary sinus defect in left atrium (disorder) |
447914003 | Total anomalous pulmonary venous connection of intracardiac type (disorder) |
447915002 | Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections (disorder) |
447917005 | Liver in central position (disorder) |
447919008 | Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) |
447928009 | Double aortic arch with balanced arches (disorder) |
447929001 | Double aortic arch with left arch dominant (disorder) |
447930006 | Double aortic arch with right arch dominant (disorder) |
447932003 | Double outlet ventriculoarterial connections (disorder) |
447937009 | Congenital abnormality of aortic valve cusp (disorder) |
447938004 | Congenital abnormality of cardiac vein (disorder) |
447939007 | Partial anomalous pulmonary venous connection of entire left lung (disorder) |
447941008 | Residual ventricular septal defect (disorder) |
44796002 | Ectopic ureter (disorder) |
447962009 | Divided left atrium with restrictive outlet of proximal chamber to left atrium (disorder) |
447968008 | Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder) |
447970004 | Double aortic arch with left arch dominant and atresia of right arch (disorder) |
447988007 | Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder) |
447997006 | Vascular ring with retrotracheal right pulmonary artery from ascending aorta (disorder) |
447998001 | Single ventricular outlet above right ventricle (disorder) |
447999009 | Single ventricular outlet above left ventricle (disorder) |
448000003 | Right superior vena cava connecting to left atrium and right atrium (disorder) |
448001004 | Right ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) |
448004007 | Acommissural unicuspid pulmonary valve (disorder) |
448005008 | Atresia of systemic vein (disorder) |
448007000 | Atrioventricular septal defect associated with tetralogy of Fallot (disorder) |
448028009 | Congenital left ventricular submitral valve aneurysm (disorder) |
448059006 | Pulmonary trunk absent with absent left pulmonary artery (disorder) |
448060001 | Pulmonary trunk absent with absent right pulmonary artery (disorder) |
448062009 | Ventricular septal defect with malaligned outlet septum (disorder) |
448063004 | Congenital abnormality of posterior cardiac vein of left ventricle (disorder) |
448064005 | Congenital abnormality of right atrium (disorder) |
448065006 | Congenital abnormality of systemic vein (disorder) |
448066007 | Divided left atrium with nonrestrictive outlet of proximal chamber to left atrium (disorder) |
448072007 | Single inlet ventricle with absent atrioventricular connection (disorder) |
448073002 | Congenital abnormality of tricuspid papillary muscle (disorder) |
448074008 | Ebstein's anomaly with functional tricuspid stenosis (disorder) |
448075009 | Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder) |
448078006 | Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder) |
448079003 | Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) |
448080000 | Single ventricular outlet above ventricle of indeterminate morphology (disorder) |
448081001 | Hepatic vein to coronary sinus (disorder) |
448082008 | Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) |
448083003 | Right ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) |
448084009 | Absent pulmonary trunk (disorder) |
448085005 | Acommissural unicuspid aortic valve (disorder) |
448086006 | Atresia of pulmonary trunk with absent left pulmonary artery (disorder) |
448087002 | Atresia of pulmonary trunk with absent right pulmonary artery (disorder) |
448092000 | Vascular ring due to aberrant subclavian artery and bilateral arterial ducts (disorder) |
448095003 | Aortic left ventricular tunnel with right coronary artery from tunnel (disorder) |
448096002 | Aberrant origin of left subclavian artery (disorder) |
448097006 | Abnormal course of aortic arch (disorder) |
448103004 | Right ventricle inferior to left ventricle (disorder) |
448105006 | Anomalous origin of pulmonary artery from patent arterial duct (disorder) |
448113007 | Right superior vena cava connecting to coronary sinus (disorder) |
448118003 | Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) |
448119006 | Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) |
448120000 | Common arterial trunk with crossed over pulmonary arteries (disorder) |
448153005 | Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal right subclavian artery (disorder) |
448154004 | Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) |
448155003 | Pulmonary atresia with ventricular septal defect of Fallot type (disorder) |
448161000 | Aortic valve overriding ventricular septum (disorder) |
448162007 | Bipartite right ventricle (disorder) |
448164008 | Cecum in left sided position (disorder) |
448181004 | Anomalous coronary venous return (disorder) |
448182006 | Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder) |
448183001 | Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) |
448184007 | Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder) |
448202002 | Left bronchial isomerism (disorder) |
448227009 | X-linked periventricular heterotopia (disorder) |
448277007 | Midline posterior apex of heart (disorder) |
448278002 | Coronary sinus drainage cephalad to left superior vena cava (disorder) |
448280008 | Malalignment of aortic sinus in relation to pulmonary sinus (disorder) |
448303009 | Vascular ring with left aortic arch to right descending aorta and right arterial ligament (disorder) |
448304003 | Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) |
448305002 | Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) |
448308000 | Right ventricular outflow tract obstruction due to common atrioventricular valve (disorder) |
448309008 | Right ventricular outflow tract obstruction due to fibromuscular shelf (disorder) |
448310003 | Right ventricular outflow tract obstruction due to malaligned outlet septum (disorder) |
448320008 | Divided left atrium with some pulmonary veins to proximal chamber (disorder) |
448331000 | Atrioventricular septal defect with restrictive ventricular component (disorder) |
448332007 | Left superior vena cava persisting to right sided atrium (disorder) |
448356006 | Coronary sinus drainage cephalad to right superior vena cava (disorder) |
448357002 | Midline anterior apex of heart (disorder) |
448412007 | Tracheal origin of right upper lobe bronchus (disorder) |
448415009 | Subaortic stenosis due to common atrioventricular valve (disorder) |
448471006 | Congenital abnormality of ascending aorta (disorder) |
448472004 | Congenital abnormality of pulmonary trunk (disorder) |
448475002 | Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder) |
448477005 | Superior to inferior ventricular relationship (disorder) |
448478000 | Systemic to pulmonary collateral artery from coronary artery (disorder) |
448479008 | Ductus arteriosus from brachiocephalic artery (disorder) |
448480006 | Ductus arteriosus from left subclavian artery (disorder) |
448486000 | Anomalous pulmonary to systemic collateral vein (disorder) |
448487009 | Anomalous pulmonary venous connection of mixed type (disorder) |
448497000 | Congenital deformity of mitral valve annulus (disorder) |
448499002 | Infracardiac location of anomalous pulmonary venous connection (disorder) |
448500006 | Intracardiac location of anomalous pulmonary venous connection (disorder) |
448501005 | Interrupted left inferior vena cava (disorder) |
448516008 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) |
448517004 | Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder) |
448577008 | Muscular subvalvar atresia of aorta (disorder) |
448595006 | Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) |
448599000 | Total anomalous pulmonary venous connection of infracardiac type (disorder) |
448604006 | Congenital abnormality of pulmonary valve cusp (disorder) |
448611005 | Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder) |
448612003 | Single ventricular outlet above both ventricles (disorder) |
448614002 | Inferior vena cava anterior and same side as descending aorta (disorder) |
448619007 | Anterior deviation of infundibular septum of Fallot type (disorder) |
448620001 | Azygos continuation of inferior vena cava to right superior vena cava (disorder) |
448624005 | Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder) |
448625006 | Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) |
448627003 | Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) |
448628008 | Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder) |
448629000 | Vascular ring with left aortic arch and right arterial ligament (disorder) |
448630005 | Vascular ring with left aortic arch and right patent arterial duct (disorder) |
448632002 | Left inferior vena cava connecting to left atrium and right atrium (disorder) |
448633007 | Right ventricular outflow tract obstruction due to atrioventricular valve (disorder) |
448634001 | Absent aortic valve cusp (disorder) |
448635000 | Absent ductus venosus (disorder) |
448637008 | Coarctation of left pulmonary artery (disorder) |
448645003 | Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) |
448646002 | Aortic arch hypoplasia distal to subclavian artery (disorder) |
448647006 | Bilateral bilobed lungs due to isomerism of left lung (disorder) |
448648001 | Bilateral trilobed lungs due to isomerism of right lung (disorder) |
448681000 | Indeterminate atrial arrangement (disorder) |
448683002 | Liver in left sided position (disorder) |
448721009 | Abnormal course of aortic arch and descending aorta (disorder) |
448726004 | Parallel course of aorta and pulmonary artery (disorder) |
448727008 | Total anomalous pulmonary venous connections of mixed type (disorder) |
448728003 | Supracardiac location of anomalous pulmonary venous connection (disorder) |
448729006 | Common atrioventricular valve in functionally univentricular heart (disorder) |
448747000 | Common arterial trunk with pulmonary origin from truncal valve sinus (disorder) |
448778001 | Obstruction of right ventricular outflow tract due to aortico-left ventricular tunnel (disorder) |
448780007 | Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) |
448782004 | Interrupted right inferior vena cava (disorder) |
448790004 | Anterior-posterior orientation of bicuspid aortic valve (disorder) |
448793002 | Bicuspid truncal valve (disorder) |
448794008 | Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) |
448809003 | Common arterial trunk with obstruction of aortic arch (disorder) |
448819009 | Right-left orientation of bicuspid aortic valve (disorder) |
448823001 | Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) |
448827000 | Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) |
448842002 | Aortico-left ventricular tunnel of simple type (disorder) |
448843007 | Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder) |
448844001 | Multiple mitral papillary muscles with hammock valve (disorder) |
448876006 | Subarterial ventricular septal defect (disorder) |
448887003 | Common arterial trunk with isolated pulmonary artery (disorder) |
44889007 | Cryptodidymus (disorder) |
448915004 | Cleft of hard palate (disorder) |
448919005 | Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) |
448920004 | Congenital abnormality of mitral subvalvular apparatus (disorder) |
448923002 | Hypoplasia of infundibular septum (disorder) |
448946000 | Anterior-posterior orientation of bicuspid pulmonary valve (disorder) |
448947009 | Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder) |
448948004 | Overriding ventriculoarterial valve (disorder) |
448965008 | Inferior vena cava connecting to right atrium and left atrium (disorder) |
448966009 | Hypoplasia of trabecular portion of right ventricle (disorder) |
448968005 | Persisting fifth aortic arch with atresia of fourth arch (disorder) |
448975006 | Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder) |
449005003 | Absence of mitral chordae tendinae (disorder) |
449014008 | Hepatic vein to left sided atrium (disorder) |
449015009 | Hepatic vein to right sided atrium (disorder) |
449016005 | Hepatic vein to left atrium and right atrium (disorder) |
449025004 | Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder) |
449027007 | Distal origin of brachiocephalic artery with tracheal compression (disorder) |
449029005 | Imperforate ventriculoarterial valve (disorder) |
449031001 | Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) |
449032008 | Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder) |
449085001 | Pulmonary artery connecting to coronary artery via collateral artery (disorder) |
449086000 | Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) |
449087009 | Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) |
449098005 | Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) |
449110001 | Congenital billowing of mitral valve leaflet (disorder) |
449118008 | Left ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) |
449123008 | Eccentric opening of tricuspid aortic valve (disorder) |
449124002 | Eccentric opening of tricuspid pulmonary valve (disorder) |
449133000 | Absence of pulmonary valve cusp (disorder) |
449138009 | Right ventricular outflow tract obstruction due to septal hypertrophy (disorder) |
449139001 | Commissural fusion of truncal valve (disorder) |
449140004 | Right-left orientation of bicuspid pulmonary valve (disorder) |
449158005 | Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder) |
449178002 | Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder) |
449188001 | Left superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) |
449190000 | Muscular ventricular septal defect in trabecular septum (disorder) |
449232001 | Aortic arch hypoplasia between carotid arteries (disorder) |
449270002 | Hypoplasia of mitral valve annulus (disorder) |
449315003 | Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder) |
449316002 | Congenital abnormality of right atrioventricular valve in double inlet ventricle (disorder) |
449350006 | Pulmonary artery with absent proximal arterial connection (disorder) |
449352003 | Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands (disorder) |
449353008 | Hypoplasia of trabecular portion of left ventricle (disorder) |
449354002 | Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) |
449379004 | Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder) |
449382009 | Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) |
449383004 | Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder) |
449385006 | Confluent muscular ventricular septal defect (disorder) |
449398002 | Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) |
449425007 | Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder) |
449426008 | Left sided azygos continuation of inferior vena cava to left superior vena cava (disorder) |
449427004 | Double aortic arch with right arch dominant and left arch patent (disorder) |
449428009 | Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication (disorder) |
449429001 | Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium (disorder) |
449430006 | Double aortic arch with left arch dominant and right arch patent (disorder) |
449434002 | Supracardiac location of anomalous pulmonary venous connection to left superior vena cava (disorder) |
449435001 | Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder) |
449436000 | Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium (disorder) |
449439007 | Absent ductus venosus with direct connection of umbilical vein to right atrium (disorder) |
449440009 | Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with extracardiac pulmonary venous chamber communication (disorder) |
449441008 | Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with pulmonary venous chamber communication to right atrium (disorder) |
449442001 | Congenital abnormality of great cardiac vein (disorder) |
449443006 | Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein (disorder) |
449444000 | Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) |
449445004 | Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries (disorder) |
449451009 | Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein (disorder) |
449452002 | Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder) |
449455000 | Abnormal attachment of tricuspid chordae tendinae (disorder) |
449456004 | Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) |
449457008 | Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) |
449458003 | Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder) |
449459006 | Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder) |
449479003 | Malattachment of atrial septum (disorder) |
449486006 | Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) |
449490008 | Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder) |
449492000 | Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication to right atrium (disorder) |
449493005 | Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein (disorder) |
449494004 | Supracardiac location of anomalous pulmonary venous connection to right superior vena cava (disorder) |
449495003 | Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) |
4495005 | Congenital hypertrophy of ureteric valve (disorder) |
449511008 | Imperforate left ventriculoarterial valve (disorder) |
449512001 | Imperforate right ventriculoarterial valve (disorder) |
449513006 | Anomalous pulmonary venous connection of mixed type with one pulmonary venous confluence (disorder) |
449514000 | Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria (disorder) |
449516003 | Separate hepatic vein and inferior vena cava connections to heart (disorder) |
449520004 | Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder) |
449521000 | Anomalous pulmonary venous connection of mixed type with two pulmonary venous confluences (disorder) |
449523002 | Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) |
449527001 | Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) |
449532000 | Congenital abnormality of anterior cardiac vein (disorder) |
449533005 | Supracardiac location of anomalous pulmonary venous connection to azygos vein (disorder) |
449536002 | Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder) |
449537006 | Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder) |
449538001 | Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder) |
449539009 | Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder) |
449547009 | Right pulmonary artery with absent proximal arterial connection (disorder) |
449563001 | Absence of primary mitral chordae tendinae (disorder) |
449567000 | Overriding left ventriculoarterial valve (disorder) |
449568005 | Overriding right ventriculoarterial valve (disorder) |
449576007 | Left pulmonary artery with absent proximal arterial connection (disorder) |
449587004 | Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber extracardiac communication (disorder) |
449593007 | Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting directly to left atrium (disorder) |
449594001 | Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting anomalously (disorder) |
449595000 | Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously (disorder) |
449596004 | Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting directly to left atrium (disorder) |
449599006 | Malattachment of atrial septum with posterior aspect of septum primum to left (disorder) |
449600009 | Malattachment of atrial septum with superior aspect of septum primum to left and posterior (disorder) |
44964000 | Congenital fusion of testis (disorder) |
449682004 | Congenital absence of part of upper limb (disorder) |
449683009 | Congenital absence of part of upper arm (disorder) |
449692007 | Congenital shortening of upper arm (disorder) |
449771004 | Dilated odontoma (disorder) |
449774007 | Radicular dens invaginatus (disorder) |
449777000 | Transient infantile osteopetrosis (disorder) |
449788006 | Crowding of posterior maxillary teeth (disorder) |
449789003 | Crowding of anterior mandibular teeth (disorder) |
449790007 | Orofacial cleft (disorder) |
449791006 | Crowding of posterior mandibular teeth (disorder) |
449798000 | Crowding of anterior maxillary teeth (disorder) |
449817000 | Peters plus syndrome (disorder) |
449821007 | Branchiooculofacial syndrome (disorder) |
449866003 | Vitreoretinal dysplasia (disorder) |
449870006 | Congenital anomaly of blood vessel of limb (disorder) |
449871005 | Congenital anomaly of blood vessel of lower limb (disorder) |
450300002 | Anomalous origin of right coronary artery from pulmonary artery (disorder) |
450301003 | Anomalous origin of left coronary artery from pulmonary artery (disorder) |
450302005 | Anomalous origin of left anterior descending coronary artery from pulmonary artery (disorder) |
450304006 | Coarctation of suprarenal abdominal aorta (disorder) |
450305007 | Coarctation of infrarenal abdominal aorta (disorder) |
450306008 | Major systemic to pulmonary collateral artery supplying both lungs (disorder) |
450307004 | Major systemic to pulmonary collateral artery supplying entire right lung (disorder) |
450308009 | Major systemic to pulmonary collateral artery supplying entire left lung (disorder) |
450309001 | Major systemic to pulmonary collateral artery supplying part of right lung (disorder) |
450310006 | Major systemic to pulmonary collateral artery supplying part of left lung (disorder) |
450311005 | Major systemic to pulmonary collateral artery supplying unknown zone of distribution (disorder) |
450312003 | Coarctation of aorta between subclavian artery and common carotid artery (disorder) |
450313008 | Coarctation of aorta between left common carotid artery and right common carotid artery (disorder) |
450314002 | Vascular ring with right aortic arch and left patent ductus arteriosus (disorder) |
450315001 | Vascular ring with right aortic arch and left ligamentum arteriosum (disorder) |
450441000124103 | Congenital absence of soft tissue of distal phalanx of finger (disorder) |
450711000124108 | Polydactyly of toes of bilateral feet (disorder) |
450808003 | Bathrocephaly (disorder) |
450931000124100 | Anophthalmos of right eye (disorder) |
451030007 | Urachal sinus (disorder) |
45142002 | Congenital pulmonary lymphangiectasis (disorder) |
45163000 | Congenital pontocerebellar hypoplasia (disorder) |
45237002 | Congenital dilatation of aorta (disorder) |
4530000 | Madelung's deformity (disorder) |
45482001 | Partial aphalangia of upper limb (disorder) |
45484000 | Partial ablepharon (disorder) |
45492009 | Congenital stenosis of superior vena cava (disorder) |
45503006 | Common ventricle (disorder) |
45582004 | Rubinstein-Taybi syndrome (disorder) |
45615004 | Manus cava (disorder) |
45795007 | Melanosis oculi (disorder) |
458039003 | Anomalous origin of left circumflex coronary artery from pulmonary artery (disorder) |
458040001 | Thoracopagus with separate hearts and pericardial sacs (disorder) |
458041002 | Thoracopagus with separate hearts and common pericardial sac (disorder) |
458042009 | Thoracopagus with conjoined atria (disorder) |
458043004 | Thoracopagus with conjoined atria and ventricles (disorder) |
458044005 | Rachipagus (disorder) |
458085000 | Parapagus (disorder) |
458086004 | Dithoracic parapagus (disorder) |
458087008 | Dicephalic parapagus (disorder) |
458088003 | Major systemic to pulmonary collateral artery (disorder) |
458422009 | Malrotation of intestine with midgut volvulus (disorder) |
458427003 | Bridging bronchus (disorder) |
459054000 | Malrotation of intestine with internal herniation (disorder) |
459062008 | Fatal congenital nonlysosomal heart glycogenosis (disorder) |
459065005 | Congenital atresia of left main stem coronary artery (disorder) |
459066006 | Anomalous origin of accessory coronary artery from pulmonary artery (disorder) |
459164007 | Systemic to pulmonary collateral artery from descending thoracic aorta (disorder) |
459165008 | Systemic to pulmonary collateral artery from abdominal aorta (disorder) |
45920002 | Pelvis plana (disorder) |
45987002 | Congenital shortening of tendon (disorder) |
4602007 | Robin sequence (disorder) |
460307002 | Systemic to pulmonary collateral artery from right carotid artery (disorder) |
460312001 | Systemic to pulmonary collateral artery from left carotid artery (disorder) |
460365008 | Systemic to pulmonary collateral artery from right renal artery (disorder) |
460370001 | Systemic to pulmonary collateral artery connecting with artery (disorder) |
460375006 | Systemic to pulmonary collateral artery from left renal artery (disorder) |
460380002 | Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder) |
460387004 | Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder) |
46041001 | Maffucci syndrome (disorder) |
460437005 | Anomalous origin of dual left anterior descending coronary arteries from right coronary artery and left coronary artery (disorder) |
460438000 | Anomalous origin of large conus artery from right coronary artery (disorder) |
460471001 | Anomalous origin of conus artery from separate aortic sinus orifice (disorder) |
460510005 | Anomalous origin of coronary arteries from anterior aortic sinus (disorder) |
460517008 | Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve (disorder) |
460524009 | Anomalous origin of right coronary artery from left anterior descending coronary artery (disorder) |
460531008 | Anomalous origin of right coronary artery from left circumflex coronary artery (disorder) |
460538002 | Anomalous origin of left coronary artery from right coronary artery (disorder) |
460545002 | Congenital atresia of right coronary artery orifice (disorder) |
460581004 | Anomalous origin of accessory coronary artery from aortic sinus (disorder) |
460582006 | Anomalous origin of left coronary artery and right coronary artery from pulmonary artery (disorder) |
460583001 | Anomalous origin of sinus node coronary artery from separate aortic sinus orifice (disorder) |
460584007 | Anomalous course of coronary artery posterior to pulmonary trunk (disorder) |
460585008 | Anomalous course of coronary artery posterior to aorta (disorder) |
460586009 | Anomalous origin of right coronary artery from left coronary artery (disorder) |
460587000 | Anomalous origin of single coronary artery from left coronary artery aortic sinus (disorder) |
460588005 | Anomalous origin of left circumflex coronary artery from right coronary aortic sinus (disorder) |
460589002 | Vascular ring with right aortic arch and left ligamentum arteriosum between left subclavian artery and left common carotid artery (disorder) |
460590006 | Vascular ring with right aortic arch and left ligamentum arteriosum with anomalous retroesophageal left subclavian artery (disorder) |
460591005 | Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal left subclavian artery (disorder) |
460592003 | Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta and anomalous left subclavian artery (disorder) |
460593008 | Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal brachiocephalic artery (disorder) |
460594002 | Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta (disorder) |
460595001 | Systemic to pulmonary collateral artery connecting with central pulmonary arteries (disorder) |
460596000 | Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder) |
460597009 | Systemic to pulmonary collateral artery connecting with tracheobronchial arteries (disorder) |
460604001 | Anomalous origin of ductus arteriosus from right carotid artery (disorder) |
460605000 | Anomalous origin of ductus arteriosus from left carotid artery (disorder) |
460606004 | Anomalous origin of ductus arteriosus from ascending aorta (disorder) |
460607008 | Anomalous origin of ductus arteriosus from aortic arch (disorder) |
460608003 | Anomalous origin of ductus arteriosus from left brachiocephalic artery (disorder) |
460609006 | Anomalous insertion of ductus arteriosus (disorder) |
460610001 | Anomalous insertion of ductus arteriosus into pulmonary trunk (disorder) |
460611002 | Anomalous insertion of ductus arteriosus into right pulmonary artery (disorder) |
460880006 | Arteriovenous fistula of great cerebral vein of Galen (disorder) |
460890003 | Anomalous common origin of brachiocephalic artery and left common carotid artery (disorder) |
460899002 | Anomalous origin of left common carotid artery from brachiocephalic artery (disorder) |
460906001 | Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum (disorder) |
460913001 | Systemic to coronary collateral artery (disorder) |
460923005 | Anomalous origin of right coronary artery from left coronary artery aortic sinus (disorder) |
460930004 | Anomalous origin of left coronary artery from right coronary aortic sinus (disorder) |
460937001 | Anomalous origin of single coronary artery from right coronary artery aortic sinus (disorder) |
460944005 | Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus (disorder) |
46100008 | Parasitic twin of asymmetrical conjoined twins (disorder) |
461090007 | Right ductus arteriosus (disorder) |
461091006 | Patent right ductus arteriosus (disorder) |
461093009 | Bilateral ductus arteriosus (disorder) |
461094003 | Bilateral ductus arteriosus with patent left ductus arteriosus and closed right ductus arteriosus (disorder) |
461095002 | Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus (disorder) |
461096001 | Bilateral patent ductus arteriosus (disorder) |
461097005 | Bilateral closed ductus arteriosus (disorder) |
461101001 | Anomalous origin of ductus arteriosus from distal descending aorta (disorder) |
461102008 | Anomalous insertion of ductus arteriosus into distal left pulmonary artery (disorder) |
461103003 | Anomalous origin of ductus arteriosus from right subclavian artery (disorder) |
461104009 | Interruption of coronary artery (disorder) |
461105005 | Anomalous origin of coronary artery from aorta (disorder) |
461107002 | Single coronary artery dividing into right coronary artery and left coronary artery (disorder) |
461109004 | Anomalous course of coronary artery anterior to pulmonary trunk and aorta (disorder) |
461110009 | Anomalous course of coronary artery posterior to pulmonary trunk and aorta (disorder) |
461111008 | Anomalous course of coronary artery anterior to aorta (disorder) |
461112001 | Anomalous course of coronary artery anterior to pulmonary trunk (disorder) |
461326001 | Anomalous separate origins of internal carotid arteries and external carotid arteries from single aortic arch (disorder) |
461331004 | Malposition of coronary artery orifice (disorder) |
461345005 | Coronary artery orifice abnormally low (disorder) |
461359003 | Common coronary artery orifice (disorder) |
461366002 | Congenital hypoplasia of descending aorta (disorder) |
461371009 | Congenital hypoplasia of abdominal aorta (disorder) |
461376004 | Congenital hypoplasia of thoracoabdominal aorta (disorder) |
461381008 | Anomalous intramural course of proximal portion of coronary artery within aortic sinus (disorder) |
461382001 | Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve (disorder) |
461383006 | Anomalous intramural course of proximal portion of coronary artery above aortic sinus (disorder) |
461384000 | Anomalous course of coronary artery across right ventricular outflow tract (disorder) |
461385004 | Anomalous course of coronary artery through infundibular septum (disorder) |
461386003 | Patent ductus arteriosus with normal origin and insertion (disorder) |
461387007 | Anomalous origin of left ductus arteriosus from right aortic arch (disorder) |
461388002 | Anomalous origin of right ductus arteriosus from right aortic arch (disorder) |
461389005 | Anomalous origin of ductus arteriosus from aortic diverticulum (disorder) |
461390001 | Anomalous insertion of ductus arteriosus into unknown site (disorder) |
461420008 | Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta (disorder) |
461421007 | Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta (disorder) |
461433002 | Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder) |
461434008 | Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation (disorder) |
461435009 | Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus (disorder) |
461436005 | Anomalous origin of dual left anterior descending coronary arteries (disorder) |
461438006 | Double barrel dual coronary artery orifices within aortic sinus (disorder) |
461439003 | Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus (disorder) |
461440001 | Congenital abnormality of systemic artery (disorder) |
461557000 | Congenital atresia of aortic arch (disorder) |
461562004 | Atresia of aortic arch with fibrous cord (disorder) |
461567005 | Atresia of aortic arch with fibrous cord distal to subclavian artery (disorder) |
461572001 | Atresia of aortic arch with fibrous cord between subclavian artery and common carotid artery (disorder) |
461577007 | Atresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery (disorder) |
461587006 | Congenital luminal atresia of aortic arch distal to subclavian artery (disorder) |
461592008 | Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery (disorder) |
461597002 | Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery (disorder) |
461629004 | Right aortic arch branching pattern (disorder) |
46395002 | Multiple renal arteries (disorder) |
46434000 | Assimilation pelvis (disorder) |
46659004 | Von Hippel-Lindau syndrome (disorder) |
46698009 | Dicephalus dipus dibrachius (disorder) |
46722007 | Congenital anomaly of pleural folds (disorder) |
46804001 | Severe x-linked myotubular myopathy (disorder) |
46829007 | Developmental displacement of brachial plexus (disorder) |
46907007 | Congenital duplication of gallbladder (disorder) |
46965001 | Agenesis of left lung (disorder) |
47028006 | Congenital hiatus hernia (disorder) |
47032000 | Congenital hydrocephalus (disorder) |
47054003 | Septate vagina (disorder) |
47070001 | Congenital web of larynx (disorder) |
470752003 | Progression of fetal right ventricular outflow tract obstruction (disorder) |
470753008 | Progression of fetal left ventricular outflow tract obstruction (disorder) |
4711003 | Congenital anomaly of bile ducts (disorder) |
471274000 | Systemic to pulmonary collateral artery contributing to dual lung supply (disorder) |
471276003 | Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) |
471277007 | Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) |
471280008 | Recurrent ventricular component of atrioventricular septal defect after prior cardiovascular surgical procedure (disorder) |
471285003 | Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471286002 | Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus (disorder) |
471287006 | Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus (disorder) |
471288001 | Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus (disorder) |
471289009 | Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471290000 | Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471291001 | Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471292008 | Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder) |
471293003 | Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471294009 | Congenital pericardial cyst (disorder) |
471297002 | Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder) |
471298007 | Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
471299004 | Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus (disorder) |
47139007 | Congenital leukonychia (disorder) |
47147007 | Congenital anomaly of lung (disorder) |
47206001 | Long tubular intestinal duplication (disorder) |
472101004 | Interruption of aortic arch distal to subclavian artery (disorder) |
472102006 | Interruption of aortic arch between subclavian artery and common carotid artery (disorder) |
472103001 | Interruption of aortic arch between left common carotid artery and right common carotid artery (disorder) |
472703008 | Pseudoacardia (disorder) |
47276000 | Congenital absence of femur (disorder) |
472777008 | Congenital intrapericardial cyst (disorder) |
472778003 | Congenital extrapericardial cyst (disorder) |
472785004 | Right ventricular outflow tract obstruction due to neoplasm (disorder) |
472786003 | Right ventricular outflow tract obstruction due to foreign body (disorder) |
472787007 | Left ventricular outflow tract obstruction due to neoplasm (disorder) |
472792009 | Congenital abnormality of supraaortic branch of thoracic aorta (disorder) |
472796007 | Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart (disorder) |
472801002 | Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart (disorder) |
472807003 | Ventricular septal defect due to and following infective endocarditis (disorder) |
472820000 | Abnormal ventriculoarterial connection with usual origin of left coronary artery from aortic sinus to right of nonfacing aortic sinus and usual origin of right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
472823003 | Cecoureterocele (disorder) |
473393007 | Congenital occlusion of coronary sinus (disorder) |
473394001 | Congenital occlusion of iliac vein (disorder) |
473395000 | Congenital occlusion of femoral vein (disorder) |
473443007 | Anomalous origin of right coronary artery (disorder) |
473444001 | Anomalous origin of left coronary artery (disorder) |
47434006 | Waardenburg's syndrome (disorder) |
4749004 | Naso-palatine duct cyst (disorder) |
47507006 | Rieger syndrome (disorder) |
47535005 | Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) |
47583008 | Congenital anomaly of the pelvis (disorder) |
47686007 | Incomplete bilateral cleft palate (disorder) |
47713000 | Congenital absence of humerus (disorder) |
47757001 | Corticosterone 18-monooxygenase deficiency (disorder) |
47880003 | Congenital absence of muscle AND/OR tendon (disorder) |
47895001 | Congenital emphysema (disorder) |
48008009 | Manus vara (disorder) |
48043005 | Pelvis justo minor (disorder) |
48061001 | Congenital calculus of kidney (disorder) |
48069004 | Acrocephaly (disorder) |
48121000 | Congenital cardiomegaly (disorder) |
48180002 | Otocephalic syndrome (disorder) |
48249002 | Congenital anisocoria (disorder) |
48301005 | Congenital absence of finger (disorder) |
48334007 | Congenital dislocation of hip (disorder) |
48337000 | Congenital stricture of urinary meatus (disorder) |
48449000 | Congenital macrodactyly (disorder) |
48520006 | Congenital atresia of cardiac vein (disorder) |
48528004 | Recessive dystrophic epidermolysis bullosa (disorder) |
48543002 | Nevus of Ito (disorder) |
48607003 | Accessory parotid gland (disorder) |
48611009 | Darier disease (disorder) |
48637007 | Multiple malformation syndrome with early overgrowth (disorder) |
48644003 | Congenital hypertrophic pyloric stenosis (disorder) |
48672005 | Accessory fallopian tube (disorder) |
48718006 | Roberts-SC phocomelia syndrome (disorder) |
48763007 | Congenital hernia of foramen of Morgagni (disorder) |
48777005 | Cranioschisis (disorder) |
49008000 | Malrotation of kidney (disorder) |
49013001 | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) |
49096008 | Duhamel's syndrome (disorder) |
49224008 | Supernumerary ear lobule (disorder) |
49226005 | Brachymetapody (disorder) |
49381001 | Congenital anomaly of retina (disorder) |
4945003 | Microgyria (disorder) |
49465005 | Angioma serpiginosum (disorder) |
49494003 | Ectopic adrenal gland (disorder) |
49496001 | Double ureter (disorder) |
49534003 | Congenital atresia of ureter (disorder) |
49714001 | Congenital anomaly of gallbladder (disorder) |
49813000 | Bilateral congenital macrostomia (disorder) |
49946005 | Podencephalus (disorder) |
49984004 | FG syndrome (disorder) |
50108000 | Osteochondrodysplasia with osteopetrosis (disorder) |
50123005 | Beals auriculo-osteodysplasia syndrome (disorder) |
50267003 | Congenital enlargement of nasopharynx (disorder) |
50307003 | Funnel-shaped pelvis (disorder) |
50429003 | Congenital stenosis of aqueduct of Sylvius (disorder) |
50513008 | Congenital atresia of bronchus (disorder) |
50658006 | Testosterone 17-beta-dehydrogenase deficiency (disorder) |
50751005 | Sinus pericranii (disorder) |
50847000 | Accessory skeletal muscle (disorder) |
50869007 | Ehlers-Danlos syndrome, type 8 (disorder) |
5087009 | Brachypellic pelvis (disorder) |
50911000 | Ectopic testis (disorder) |
50913002 | Grob's syndrome (disorder) |
50943000 | Congenital anomaly of bronchus (disorder) |
50956007 | Accessory nipple (disorder) |
50986000 | Congenital fistula of urachus (disorder) |
5102002 | Agenesis of corpus callosum (disorder) |
51057008 | Ulerythema of cheeks (disorder) |
51060001 | Diprosopus tetrophthalmus (disorder) |
51062009 | Congenital constriction of pylorus (disorder) |
51089004 | Birthmark (disorder) |
51118003 | Congenital atresia of duodenum (disorder) |
51174006 | Congenital melanosis of sclera (disorder) |
51219000 | Bifid thumb (disorder) |
5132005 | Keratosis pilaris (disorder) |
51409009 | Asymmetric crying face association (disorder) |
51442005 | Congenital atresia of aortic valve (disorder) |
51523009 | Congenital laryngocele (disorder) |
5153001 | Ectopic anus (disorder) |
51626007 | Werner syndrome (disorder) |
51635000 | Congenital absence of all fingers (disorder) |
51655004 | Congenital anomaly of skull (disorder) |
51693009 | Congenital absence of prostate (disorder) |
51744007 | Taurodontism (disorder) |
51780007 | Cerebro-costo-mandibular syndrome (disorder) |
51789008 | Congenital malposition of cardiac apex (disorder) |
51794008 | Congenital anomaly of ureter (disorder) |
5187006 | Prune belly syndrome (disorder) |
51952004 | Spondyloepiphyseal dysplasia tarda (disorder) |
520004 | Congenital bent nose (disorder) |
52022007 | Congenital absence of ulna (disorder) |
52083000 | Infantile lobar overinflation of lung (disorder) |
52159006 | Universal mesentery (disorder) |
5230009 | Congenital absence of coronary artery (disorder) |
52330001 | Meningoencephalocele (disorder) |
52415006 | Low assimilation pelvis (disorder) |
52474000 | Ectromelia of lower limb (disorder) |
52579008 | Accessory lung (disorder) |
52604008 | Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) |
52616002 | Freeman-Sheldon syndrome (disorder) |
52781008 | Congenital hip dysplasia (disorder) |
52837007 | Longitudinal deficiency of femur (disorder) |
5286009 | Congenital absence of vas deferens (disorder) |
52868006 | Oral-facial-digital syndrome (disorder) |
52879001 | Congenital atresia of glottis (disorder) |
52904006 | Congenital anomaly of vagina (disorder) |
53076002 | Congenital gastric perforation (disorder) |
53189005 | Congenital atresia of trachea (disorder) |
53190001 | Vascular compression of esophagus by aberrant artery (disorder) |
53318002 | Spina bifida with hydrocephalus (disorder) |
53329003 | Platypellic pelvis (disorder) |
53599007 | Testicular regression syndrome (disorder) |
5361003 | Embryonal nuclear cataract (disorder) |
53633000 | Peutz-Jeghers polyps of small bowel (disorder) |
5364006 | Uterus subseptus (disorder) |
53697002 | Accessory lacrimal canal (disorder) |
53748002 | Congenital junctional epidermolysis bullosa-pyloric atresia syndrome (disorder) |
53776005 | Encephalocystocele (disorder) |
53790008 | Beaked pelvis (disorder) |
53842005 | Congenital hallux valgus (disorder) |
53849001 | Nodular embryo (disorder) |
5397007 | Congenital anomaly of renal pelvis (disorder) |
53974002 | Kniest dysplasia (disorder) |
54008006 | Sternum bifidum (disorder) |
54036001 | Oto-palato-digital syndrome, type I (disorder) |
54073003 | Monocuspid cardiac valve (disorder) |
54160000 | Congenital aneurysm of sinus of Valsalva (disorder) |
54176009 | Congenital cyst of canal of Nuck (disorder) |
54209007 | Hidrotic ectodermal dysplasia syndrome (disorder) |
54265003 | Congenital anomaly of cerebral artery (disorder) |
5432003 | Transposition of appendix (disorder) |
54336006 | Ichthyosis linearis circumflexa (disorder) |
54359000 | Congenital corneal opacity not interfering with vision (disorder) |
54386000 | Congenital fusion of ossicles of ear (disorder) |
54411001 | Peutz-Jeghers syndrome (disorder) |
54554009 | Pancreas divisum (disorder) |
54616001 | Congenital hypertrophy of pylorus (disorder) |
54668008 | Uterus biforis (disorder) |
54682008 | Congenital hypoplasia of pulmonary artery (disorder) |
54694004 | Mobile cecum (disorder) |
54764003 | Synchilia (disorder) |
54794009 | Ectopic gray matter in centrum ovale (disorder) |
54837006 | Straight back syndrome (disorder) |
54873004 | Congenital anomaly of orbit proper (disorder) |
54954004 | Aspartylglucosaminuria (disorder) |
54967001 | Double kidney (disorder) |
55016009 | Congenital muscular hypertrophy-cerebral syndrome (disorder) |
55133004 | Multi-core congenital myopathy (disorder) |
55193002 | Congenital anomaly of small intestine (disorder) |
55197001 | Dens in dente (disorder) |
55379003 | Congenital pseudoarthrosis of tibia (disorder) |
55490007 | Congenital laryngeal stridor (disorder) |
55510008 | Cor triatriatum (disorder) |
55520003 | Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta (disorder) |
55536001 | Congenital malposition of kidney (disorder) |
55546004 | Anomalous origin of left circumflex artery from right coronary artery (disorder) |
55631001 | Congenital anomaly of testis (disorder) |
5565008 | Congenital diverticulum of trachea (disorder) |
55709000 | Ethmocephalus (disorder) |
55711009 | Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) |
55819001 | Albinotic fundus (disorder) |
55821006 | Hay-Wells syndrome of ectodermal dysplasia (disorder) |
55838005 | Athyrotic hypothyroidism sequence (disorder) |
55856005 | Congenital hyperplasia of kidney (disorder) |
55999004 | Encephalocele (disorder) |
5601008 | Klippel-Feil sequence (disorder) |
56013008 | Congenital duplication of biliary duct (disorder) |
56090007 | Pseudohypoparathyroidism type I B (disorder) |
56108007 | Congenital pelvic kidney (disorder) |
56118002 | Congenital syphilitic splenomegaly (disorder) |
56155002 | Hemispheric cerebral agenesis (disorder) |
5619004 | Bardet-Biedl syndrome (disorder) |
56212008 | Leydig cell agenesis (disorder) |
56309007 | Congenital subaortic stenosis of tunnel type (disorder) |
5645008 | Nasal glial heterotopia (disorder) |
56531003 | Ulegyria (disorder) |
56558005 | Congenital hypotrichia (disorder) |
56604005 | Cohen syndrome (disorder) |
56643009 | Blunderbuss pelvis (disorder) |
56677004 | Pallister-Hall syndrome (disorder) |
56692003 | Rhizomelic chondrodysplasia punctata syndrome (disorder) |
56759000 | Congenital anomaly of subcutaneous tissue (disorder) |
56797000 | Congenital hypertrichosis (disorder) |
56823000 | Cervical thyroid remnant (disorder) |
57088004 | Microcystic renal disease (disorder) |
57148006 | Congenital anomaly of brain (disorder) |
57219006 | Craniosynostosis syndrome (disorder) |
57436000 | Congenital absence of external ear (disorder) |
57451009 | Congenital tracheobronchomegaly (disorder) |
57497006 | Congenital anomaly of spleen (disorder) |
57514000 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) |
57544002 | Multiple malformation syndrome due to non-infectious environmental agents (disorder) |
57917004 | Seckel syndrome (disorder) |
57918009 | Janiceps (disorder) |
57921006 | Congenital adhesions of omentum (disorder) |
58010002 | Congenital absence of tibia AND fibula (disorder) |
58037000 | Cowden syndrome (disorder) |
58112007 | Mannosidosis, type II (disorder) |
58135005 | Congenital duplication of cervix (disorder) |
5842009 | Spinal cord dysplasia (disorder) |
58557008 | Spina bifida aperta (disorder) |
58561002 | Diastrophic dysplasia (disorder) |
58670006 | Accessory lacrimal gland disorder (disorder) |
58795000 | Distal muscular dystrophy (disorder) |
58833000 | Pseudohypoparathyroidism type I A (disorder) |
58882000 | Congenital cystic eyeball (disorder) |
59035004 | Congenital anomaly of female genital system (disorder) |
59068006 | Congenital dislocation of knee (disorder) |
59070002 | Partial aphalangia of lower limb (disorder) |
59128005 | Congenital honeycomb lung (disorder) |
59178007 | Menkes kinky-hair syndrome (disorder) |
59352006 | Longitudinal deficiency of radius AND ulna (disorder) |
59399004 | Cutis laxa, x-linked (disorder) |
59423009 | Congenital atresia of nasopharynx (disorder) |
59451000 | Cutis laxa, autosomal recessive (disorder) |
59494005 | Congenital septal defect of heart (disorder) |
59514009 | Congenital absence of large intestine (disorder) |
59554006 | Holoacardius acormus (disorder) |
59600000 | Persistent omphalomesenteric artery (disorder) |
59631007 | Anomalous pulmonary venous drainage (disorder) |
5968001 | Congenital fusion of sacroiliac joint (disorder) |
59693007 | Manus plana (disorder) |
59708000 | Multiple epiphyseal dysplasia (disorder) |
59758007 | Trifid pelvis of kidney (disorder) |
59763006 | Hyperphosphatasemia tarda (disorder) |
59777009 | Thoracopagus (disorder) |
59857007 | Branchial cleft cyst (disorder) |
59877000 | Congenital anomaly of aorta (disorder) |
59981001 | Congenital absence of penis (disorder) |
60091004 | Congenital stricture of artery (disorder) |
60106004 | Common arterial trunk and separate origin of pulmonary arteries (disorder) |
60108003 | Congenital dislocation of one hip with subluxation of other (disorder) |
60192008 | Lethal multiple pterygium syndrome (disorder) |
60220000 | Partial congenital absence of limb (disorder) |
60232001 | Cleft leaflet of tricuspid valve (disorder) |
60291005 | Congenital absence of clitoris (disorder) |
60318001 | Duane's syndrome (disorder) |
60399005 | Dermatofibrosis lenticularis disseminata (disorder) |
60447007 | Congenital anomaly of tongue (disorder) |
60475009 | Congenital anomaly of limb (disorder) |
60505005 | Congenital anomaly of optic disc (disorder) |
60590005 | Maternal phenylketonuria fetal effect (disorder) |
60637003 | Congenital anomaly of adrenal gland (disorder) |
60652005 | Congenital cyst of mediastinum (disorder) |
60680007 | Duplication of duodenum (disorder) |
60699003 | Congenital anomaly of stomach (disorder) |
60732002 | Atrial septal defect with endocardial cushion defect, partial type (disorder) |
60787001 | Congenital hypoplasia of aortic arch (disorder) |
60876000 | Gardner syndrome (disorder) |
609417004 | Fetal anencephaly (disorder) |
609528003 | Posterior fossa arachnoid cyst (disorder) |
609529006 | Persistent Blake's pouch cyst (disorder) |
60983006 | Congenital esophagotracheal fistula (disorder) |
61003004 | Epidermolysis bullosa (disorder) |
61108006 | Ectopic intestinal mucosa (disorder) |
61142002 | Microphthalmos (disorder) |
61172008 | Infantile fucosidosis (disorder) |
61293001 | Congenital deformity of knee joint (disorder) |
613003 | Fragile X syndrome (disorder) |
61367005 | Jarcho-Levin syndrome (disorder) |
61476004 | Embryonic cyst of vagina (disorder) |
61598006 | Glycogenosis with glucoaminophosphaturia (disorder) |
61649007 | Congenital oculocutaneous hypopigmentation (disorder) |
61665008 | Turcot syndrome (disorder) |
61758007 | Exstrophy of bladder sequence (disorder) |
61819007 | Rachischisis (disorder) |
61852001 | Ask-Upmark kidney (disorder) |
61900003 | Longitudinal deficiency of radius (disorder) |
61959006 | Common truncus arteriosus (disorder) |
62023000 | Arterial anomaly of umbilical cord (disorder) |
62042001 | Splenogonadal fusion (disorder) |
62110005 | Fetal methyl mercury syndrome (disorder) |
62144003 | Punctate oculocutaneous albinoidism (disorder) |
62158001 | Status marmoratus (disorder) |
62192003 | Diprosopus (disorder) |
62218008 | Polydactyly of toes (disorder) |
62250003 | Arachnodactyly (disorder) |
62311004 | Mannosidosis, type I (disorder) |
62500006 | Accessory bladder (disorder) |
62501005 | Chondroectodermal dysplasia (disorder) |
62524003 | Ectopic ovary (disorder) |
62588002 | Amelia (disorder) |
62628008 | Multiple synostosis syndrome (disorder) |
62631009 | Congenital cyst of posterior segment of eye (disorder) |
62654000 | Failure of rotation of cecum (disorder) |
62667002 | Congenital deviation of nasal septum (disorder) |
62803002 | Frontometaphyseal dysplasia (disorder) |
62815003 | Incomplete bilateral cleft lip (disorder) |
6282000 | Congenital anomaly of vas deferens (disorder) |
6296006 | Congenital dilatation of trachea (disorder) |
62964007 | Antley-Bixler syndrome (disorder) |
62977003 | Persistent tunica vasculosa lentis (disorder) |
63042009 | Congenital atresia of tricuspid valve (disorder) |
63119004 | Weaver syndrome (disorder) |
63122002 | Hajdu-Cheney syndrome (disorder) |
63191000119107 | Complex congenital heart defect (disorder) |
63216003 | Congenital keratoconus (disorder) |
63247009 | Williams syndrome (disorder) |
63253009 | Congenital rectovestibular fistula (disorder) |
63340009 | Acephalocheiria (disorder) |
63387002 | Larsen syndrome (disorder) |
63391007 | Ulnar dimelia (disorder) |
63413008 | Accessory ossification center (disorder) |
63450009 | Rufous albinism (disorder) |
63567004 | Uranostaphyloschisis (disorder) |
63691004 | Dens evaginatus (disorder) |
63711009 | Brachydactyly syndrome type E (disorder) |
63783001 | Brachygnathism (disorder) |
6380005 | Inverted pelvis (disorder) |
63844009 | Oculocutaneous albinism (disorder) |
63890001 | Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder) |
63934006 | Overriding aorta (disorder) |
63935007 | Congenital absence of eyelash (disorder) |
64008009 | Hemimelia of upper limb (disorder) |
64162006 | Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) |
64233004 | Embryonic cyst of fimbria of fallopian tube (disorder) |
64268004 | Median palatal cyst (disorder) |
64283009 | Congenital rectovesical fistula (disorder) |
64320007 | Congenital chordee (disorder) |
64370005 | Aganglionosis of parasympathetic nerve ganglia (disorder) |
64404003 | Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder) |
64490002 | Anakatadidymus (disorder) |
64491003 | Myxedematous form of cretinism (disorder) |
64596006 | Congenital clubnail (disorder) |
64716005 | Fucosidosis (disorder) |
64727007 | Accessory ureter (disorder) |
6477005 | Malrotation of colon (disorder) |
6479008 | Partial albinism (disorder) |
6483008 | Tyrosinase-negative oculocutaneous albinism (disorder) |
64862009 | Congenital rhabdomyoma of heart (disorder) |
64969001 | Partial congenital absence of teeth (disorder) |
64981002 | Congenital atresia of larynx (disorder) |
65033000 | Congenital anomaly of hair (disorder) |
65048006 | Accessory parathyroid gland (disorder) |
65094009 | Multiple malformation syndrome with facial defects as major feature (disorder) |
65144005 | Congenital spinal meningocele (disorder) |
65146007 | Ectopic spleen (disorder) |
65178004 | Deventer's pelvis (disorder) |
65237009 | Accessory thyroid gland (disorder) |
65274008 | Congenital anomaly of parathyroid glands (disorder) |
6537000 | Ectopic pituitary tissue (disorder) |
65455002 | Nasal encephalocele (disorder) |
65524005 | Mannosidosis (disorder) |
65573001 | High assimilation pelvis (disorder) |
65587001 | Congenital anomaly of cerebrovascular system (disorder) |
65704008 | Congenital anomaly of vulva (disorder) |
6573007 | Reniform pelvis (disorder) |
65764006 | Pseudo-Hurler polydystrophy (disorder) |
65937002 | Imperforate hymen (disorder) |
65950001 | Bayonet hair (disorder) |
65976001 | Cleidocranial dysostosis (disorder) |
65986000 | Fetal aminopterin syndrome (disorder) |
65997000 | Congenital fold of posterior segment of eye (disorder) |
66038001 | Miller syndrome (disorder) |
66042003 | Congenital hyperplasia of muscle (disorder) |
66063001 | Regional odontodysplasia (disorder) |
66078008 | Longitudinal deficiency of lower limb (disorder) |
66102006 | Congenital fusion of ribs (disorder) |
66149005 | Hyperplasia of pancreatic islet beta cell (disorder) |
66345008 | Congenital absence of toe (disorder) |
66351003 | Fetal trimethadione syndrome (disorder) |
66403007 | Vascular ring of aorta (disorder) |
66426000 | Craniopagus parietalis (disorder) |
66489009 | Congenital absence of lung (disorder) |
66499004 | Congenital cortical cataract (disorder) |
66510004 | Congenital anomaly of upper limb (disorder) |
66597000 | Congenital cervicoaural fistula (disorder) |
6667002 | Anadidymus (disorder) |
66727005 | Mesotaurodontism (disorder) |
66758006 | Acrodysostosis (disorder) |
66783006 | Popliteal pterygium syndrome (disorder) |
66793004 | Congenital absence of alimentary tract (disorder) |
66858001 | Anomalous pulmonary venous drainage to superior vena cava (disorder) |
66865009 | Congenital duplication of esophagus (disorder) |
6688006 | Congenital absence of patella (disorder) |
66948001 | Cleft palate with cleft lip (disorder) |
66987001 | Congenital lobar emphysema (disorder) |
67012005 | Pyloric antral atresia (disorder) |
67144006 | Epidermolysis bullosa simplex (disorder) |
67202007 | Ehlers-Danlos syndrome, type 5 (disorder) |
6724001 | Ectopic pancreas in duodenum (disorder) |
6729006 | Cerebral-retinal arteriovenous aneurysm (disorder) |
67504007 | Shell teeth (disorder) |
67510007 | Ichthyosis hystrix (disorder) |
67531005 | Spina bifida (disorder) |
67653003 | Pretibial epidermolysis bullosa (disorder) |
67787004 | Tongue tie (disorder) |
67817003 | Pili torti-deafness syndrome (disorder) |
67904000 | Dwarf pelvis (disorder) |
67944007 | Lhermitte-Duclos disease (disorder) |
67985002 | Congenital anomaly of membranous labyrinth (disorder) |
67988000 | Congenital anomaly of cartilage (disorder) |
68092007 | Anomalous origin of pulmonary artery (disorder) |
68094008 | Congenital hypoplasia of bile duct (disorder) |
68186003 | Congenital myopathy with abnormal subcellular organelles (disorder) |
68237008 | Partial anomalous pulmonary venous connection (disorder) |
68284008 | Talipes equinovalgus (disorder) |
683221000119107 | Congenital melanocytic nevus of skin of face (disorder) |
68352004 | Accessory adrenal gland (disorder) |
68359008 | Congenital hemivertebra (disorder) |
6839008 | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome (disorder) |
68504005 | Ataxia-telangiectasia syndrome (disorder) |
68539005 | Congenital bronchopulmonary foregut malformation (disorder) |
68551007 | Limb reduction-ichthyosis syndrome (disorder) |
68557006 | Talipes planovalgus (disorder) |
68591005 | Congenital hypoplasia of pancreas (disorder) |
68716001 | Situs inversus abdominalis (disorder) |
6874009 | Congenital keratoderma (disorder) |
69015003 | Double urethra (disorder) |
69056000 | Macrotia (disorder) |
69093006 | Rothmund-Thomson syndrome (disorder) |
69248007 | Congenital anomaly of fixation of intestine (disorder) |
69278003 | Congenital aniridia (disorder) |
6936002 | Cleft lip sequence (disorder) |
69381005 | Macrodactylia of fingers (disorder) |
69488000 | Beaded hair (disorder) |
69518005 | Congenital anomaly of digestive system (disorder) |
69664005 | Ecchordosis physaliphora (disorder) |
69729007 | Unilobar lung (disorder) |
69771008 | Congenital anomaly of esophagus (disorder) |
697924002 | Pulmonary hypertension in neurofibromatosis (disorder) |
697952006 | Single tooth macrodontia (disorder) |
697960007 | Relative generalized macrodontia (disorder) |
698051004 | Relative generalized microdontia (disorder) |
698189006 | Hypotaurodontism (disorder) |
698601005 | Single congenital anomaly (disorder) |
698765007 | Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) |
698766008 | Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome (disorder) |
698846009 | Tibial muscular dystrophy (disorder) |
698851003 | SOX2 anophthalmia syndrome (disorder) |
698999002 | Congenital atresia of aqueduct of Sylvius (disorder) |
699000000 | Thyroglossal duct sinus (disorder) |
699049007 | Acrosyndactyly of toe (disorder) |
699051006 | Male subcoronal hypospadias (disorder) |
699055002 | Prominent renal pelvis (disorder) |
699238006 | Congenital prelingual deafness (disorder) |
699256006 | Timothy syndrome type 1 (disorder) |
69927002 | Persistent primary vitreous (disorder) |
699275001 | WNT4 Müllerian aplasia and ovarian dysfunction (disorder) |
699297004 | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) |
699298009 | Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) |
699300009 | Oculofaciocardiodental syndrome (disorder) |
699301008 | Multiple venous malformation of skin and mucous membrane (disorder) |
699313003 | Weissenbacher-Zweymuller syndrome (disorder) |
699316006 | Myhre syndrome (disorder) |
699381006 | Oculoskeletal dysplasia (disorder) |
699382004 | Enamel agenesis (disorder) |
699418008 | Shovel-shaped incisor (disorder) |
699420006 | Hemifacial myohyperplasia (disorder) |
6996004 | Congenital absence of pulmonary valve (disorder) |
699700006 | Median cleft lip and alveolus (disorder) |
699762000 | Congenital double lip (disorder) |
699812002 | Subependymal nodular heterotopia (disorder) |
699853005 | Ectopic tooth in labial sulcus (disorder) |
699867001 | Duane-radial ray syndrome (disorder) |
699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |
699871003 | Congenital penile adhesion (disorder) |
699943005 | Congenital anomaly of vertebral region of back (disorder) |
70013003 | Asymmetrical conjoined twins (disorder) |
700257009 | Congenital megaduodenum (disorder) |
700278007 | Congenital vascular anomaly of eyelid (disorder) |
700279004 | Congenital vascular anomaly of upper eyelid (disorder) |
700369004 | Congenital vascular anomaly of lower eyelid (disorder) |
70041004 | Erythrokeratodermia variabilis (disorder) |
70065001 | Fetal hydantoin syndrome (disorder) |
70123009 | Congenital cubitus valgus (disorder) |
70195006 | Congenital anomaly of superior vena cava (disorder) |
70199000 | I-cell disease (disorder) |
702312009 | Tarsal-carpal coalition syndrome (disorder) |
702313004 | Tetra-amelia syndrome (disorder) |
702339001 | Spondyloperipheral dysplasia (disorder) |
702342007 | Dolichospondylic dysplasia (disorder) |
702343002 | Early onset myopathy with fatal cardiomyopathy (disorder) |
702346005 | Chromosome 11p11.2 deletion syndrome (disorder) |
702347001 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) |
702350003 | Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) |
702351004 | Spondylocarpotarsal synostosis syndrome (disorder) |
702358005 | Persistent Müllerian duct syndrome (disorder) |
702361006 | Crouzon syndrome with acanthosis nigricans (disorder) |
702367005 | Genitopatellar syndrome (disorder) |
702382000 | Inclusion body myopathy 2 (disorder) |
702383005 | Distal myopathy 2 (disorder) |
702400006 | Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) |
702407009 | Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) |
702413000 | RAPADILINO syndrome (disorder) |
702425002 | Hand-foot-genital syndrome (disorder) |
702432006 | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
702433001 | Congenital cataracts, facial dysmorphism and neuropathy (disorder) |
702434007 | Distal penile hypospadias (disorder) |
702436009 | Proximal penile hypospadias (disorder) |
702443003 | Auriculo-condylar syndrome (disorder) |
702462000 | Scrotal hypospadias (disorder) |
702610009 | Congenital aplasia of vas deferens (disorder) |
702611008 | Congenital brain aplasia (disorder) |
702612001 | Congenital aplasia of lung (disorder) |
702613006 | Aplasia of diaphragm (disorder) |
702614000 | Aplasia of parathyroid gland (disorder) |
702615004 | Aplasia of adrenal gland (disorder) |
702616003 | Aplasia of spermatic cord (disorder) |
702623002 | Aplasia of thymus (disorder) |
702624008 | Aplasia of spleen (disorder) |
702627001 | Aplasia of testicle (disorder) |
702628006 | Congenital anomaly of cerebrum (disorder) |
702829000 | Warsaw breakage syndrome (disorder) |
702957008 | Talipes equinocavovarus (disorder) |
703000 | Congenital adhesions of tongue (disorder) |
703132007 | Lingual ectopic tooth (disorder) |
70318002 | Congenital anomaly of penis (disorder) |
703193000 | Congenital malformation of dural sinus (disorder) |
703197004 | Congenital capillary hemangioma (disorder) |
70320004 | Congenital anomaly of heart valve (disorder) |
703221003 | Congenital intracranial vascular malformation (disorder) |
703265006 | Arteriovenous malformation of face (disorder) |
703266007 | Cerebrofacial arteriovenous metameric syndrome (disorder) |
703267003 | Cerebrofacial arteriovenous metameric syndrome type 1 (disorder) |
703268008 | Cerebrofacial arteriovenous metameric syndrome type 3 (disorder) |
703284009 | Phakomatosis cesioflammea (disorder) |
703285005 | Phakomatosis spilorosea (disorder) |
703286006 | Phakomatosis caesiomarmorata (disorder) |
703298001 | Diffuse lymphatic malformation (disorder) |
703299009 | Cutaneous capillary malformation (disorder) |
703329004 | Arteriovenous malformation of trunk (disorder) |
703331008 | Arteriovenous malformation of limb (disorder) |
703334000 | Arteriovenous malformation of mandible (disorder) |
703335004 | Arteriovenous malformation of maxilla (disorder) |
703336003 | Arteriovenous malformation of frontonasal process (disorder) |
703369003 | Microcephaly-capillary malformation syndrome (disorder) |
703385008 | Anomalous origin of pulmonary artery from ascending aorta (disorder) |
703403003 | Ophthalmo-acromelic syndrome (disorder) |
703504006 | Congenital reticular ichthyosiform erythroderma (disorder) |
703523004 | Spondyloenchondrodysplasia with immune dysregulation (disorder) |
703525006 | Anhidrotic ectodermal dysplasia with immune deficiency (disorder) |
703528008 | Cutis gyrata syndrome of Beare and Stevenson (disorder) |
703533007 | Capillary malformation-arteriovenous malformation syndrome (disorder) |
703534001 | Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) |
703535000 | Mowat-Wilson syndrome (disorder) |
703536004 | Megalencephalic leukoencephalopathy with subcortical cysts (disorder) |
703539006 | Manitoba oculotrichoanal syndrome (disorder) |
703542000 | Retinal detachment and occipital encephalocele (disorder) |
703544004 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) |
703973009 | First and second branchial arch syndrome (disorder) |
70410008 | Acrocephalosyndactyly type V (disorder) |
70450006 | Ectopic gastric tissue (disorder) |
70499005 | Congenital dermal sinus (disorder) |
70534000 | Occult spinal dysraphism sequence (disorder) |
70550008 | Streak ovary (disorder) |
70583001 | Incomplete development of membranous labyrinth (disorder) |
70602002 | Pseudocoarctation of aorta (disorder) |
70610001 | Ehlers-Danlos syndrome, recessive type 4 (disorder) |
70642007 | Pygopagus (disorder) |
70690000 | Congenital discoid meniscus (disorder) |
70705008 | Accessory salivary gland (disorder) |
707200002 | Descending aorta anterior and same side as azygos vein with absent inferior vena cava (disorder) |
707234001 | Fourth branchial cleft cyst (disorder) |
707254000 | Amniotic adhesion (disorder) |
707272006 | Autosomal recessive dyskeratosis congenita (disorder) |
707273001 | Autosomal dominant dyskeratosis congenita (disorder) |
707276009 | Hoyeraal-Hreidarsson syndrome (disorder) |
707310009 | Globodontia (disorder) |
707371002 | Congenital stenosis of left pulmonary artery (disorder) |
707372009 | Congenital stenosis of right pulmonary artery (disorder) |
707541006 | Acute respiratory distress in newborn with surfactant disorder (disorder) |
70756004 | Bronchial atresia with segmental pulmonary emphysema (disorder) |
707607008 | Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder) |
707608003 | Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) |
707609006 | Solitary median maxillary central incisor syndrome (disorder) |
707679005 | Hypoplasia of first permanent molar tooth (disorder) |
707681007 | Localized hypoplasia of tooth (disorder) |
707711006 | Congenital primary pulmonary lymphangiectasis (disorder) |
707713009 | Congenital secondary pulmonary lymphangiectasis (disorder) |
707770004 | Congenital duplication of renal collecting system (disorder) |
707796002 | Fusion of mandibular incisor teeth (disorder) |
70794004 | Congenital pseudoarthrosis of clavicle (disorder) |
708022000 | Congenital pulmonary lymphatic dysplasia syndrome (disorder) |
708028001 | Congenital pulmonary alveolar capillary dysplasia (disorder) |
708029009 | Congenital pulmonary acinar dysplasia (disorder) |
708059004 | Atresia of penile urethra (disorder) |
708536001 | X-linked dyskeratosis congenita (disorder) |
708541009 | Complete ablepharon (disorder) |
708669006 | Bifid mandibular condyle (disorder) |
708677005 | Congenital malformation of mandibular glenoid fossa (disorder) |
709003000 | Salivary gland heterotopia (disorder) |
70902004 | Longitudinal deficiency of upper limb (disorder) |
709105005 | Jackson-Weiss syndrome (disorder) |
709416009 | Acral peeling skin syndrome (disorder) |
70943004 | Allemann's syndrome (disorder) |
709465004 | Periodontitis co-occurrent with Chédiak-Higashi syndrome (disorder) |
709466003 | Periodontitis co-occurrent with Cohen syndrome (disorder) |
709604005 | Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 (disorder) |
70974002 | Congenital absence of rib (disorder) |
70978004 | Situs inversus thoracis (disorder) |
71009001 | Multiseptate gallbladder (disorder) |
71016000 | Dicheirus (disorder) |
7102003 | Cyst of omentum (disorder) |
710232008 | Congenital saddle nose (disorder) |
71084008 | Congenital absence of upper arm AND forearm (disorder) |
711039004 | Acrobrachycephaly (disorder) |
711100005 | Caliber persistent labial artery (disorder) |
711153001 | Bowen-Conradi syndrome (disorder) |
711154007 | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) |
711156009 | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) |
711407000 | Thrombocytopathy, asplenia and miosis (disorder) |
711543008 | Mandibulofacial dysostosis with microcephaly (disorder) |
711546000 | Concordant ventriculoarterial connection with parallel great arteries (disorder) |
71178008 | Congenital spinal hydromeningocele (disorder) |
71322004 | Ehlers-Danlos syndrome, familial joint laxity type (disorder) |
7134007 | Osteogenesis imperfecta, dominant perinatal lethal (disorder) |
713509006 | Congenital penile torsion (disorder) |
71464000 | Dipygus (disorder) |
71485000 | Macrodontia (disorder) |
715201005 | Congenital short bowel syndrome (disorder) |
715215007 | Chromosome 11p13 deletion syndrome (disorder) |
715240000 | X-linked retinal dysplasia (disorder) |
715242008 | Ulna metaphyseal dysplasia syndrome (disorder) |
715318006 | Ehlers-Danlos syndrome classic type (disorder) |
715344006 | Neurofibromatosis Noonan syndrome (disorder) |
715369006 | Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) |
715371006 | Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) |
715404000 | Ameloonychohypohidrotic syndrome (disorder) |
715406003 | Isolated lissencephaly type 1 without known genetic defect (disorder) |
715409005 | Trigonocephaly C syndrome (disorder) |
715421009 | Craniofrontonasal dysplasia (disorder) |
715422002 | Craniotelencephalic dysplasia (disorder) |
715427008 | Acromelic frontonasal dysplasia (disorder) |
715428003 | Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
715429006 | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) |
715430001 | Embryofetopathy caused by indomethacin (disorder) |
715431002 | Embryopathy caused by phenobarbital (disorder) |
715434005 | Holoprosencephaly craniosynostosis syndrome (disorder) |
715436007 | Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) |
715440003 | Mirror hands and feet co-occurrent with nasal defect (disorder) |
715441004 | McDonough syndrome (disorder) |
715442006 | Syndactyly of fingers type 8 (disorder) |
715462003 | Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) |
715463008 | Congenital pontocerebellar hypoplasia type 2 (disorder) |
715464002 | Microcephalus microcornea syndrome of Seemanova type (disorder) |
715470008 | Brachydactylous dwarfism Mseleni type (disorder) |
715471007 | Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) |
715472000 | Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) |
715474004 | Aplasia of fibula co-occurrent with complex brachydactyly (disorder) |
715484003 | Ophthalmomandibulomelic dysplasia (disorder) |
715487005 | Autosomal recessive distal osteolysis syndrome (disorder) |
715505002 | Rhizomelic dysplasia of Patterson Lowry type (disorder) |
715506001 | Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
715522000 | Phocomelia Schinzel type (disorder) |
715523005 | Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) |
715524004 | Delayed membranous cranial ossification (disorder) |
715527006 | Deafness and oligodontia syndrome (disorder) |
715531000 | Tibial aplasia and ectrodactyly syndrome (disorder) |
715532007 | Weismann Netter syndrome (disorder) |
715533002 | Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) |
715535009 | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) |
715565004 | Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
715568002 | Gnathodiaphyseal dysplasia syndrome (disorder) |
715576000 | Ectodermal dysplasia with natal teeth Turnpenny type (disorder) |
715628009 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) |
715631005 | Chondrodysplasia punctata Toriello type (disorder) |
715632003 | Oculocutaneous albinism type 4 (disorder) |
715644000 | Glomuvenous malformation (disorder) |
715646003 | Desmin related myopathy with Mallory body-like inclusions (disorder) |
715652002 | Mesomelic dysplasia Savarirayan type (disorder) |
715653007 | Spondyloocular syndrome (disorder) |
715654001 | Ischio-vertebral syndrome (disorder) |
715656004 | Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) |
715670004 | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) |
715672007 | Multiple epiphyseal dysplasia type 4 (disorder) |
715673002 | Multiple epiphyseal dysplasia type 1 (disorder) |
715674008 | Multiple epiphyseal dysplasia type 5 (disorder) |
715704001 | Postaxial polydactyly type A (disorder) |
715707008 | Postaxial polydactyly type B (disorder) |
715710001 | Polydactyly of triphalangeal thumb (disorder) |
715720006 | Brachydactyly type A1 (disorder) |
715721005 | Brachydactyly type A4 (disorder) |
715722003 | Brachydactyly type A6 (disorder) |
715723008 | Syndactyly type 1 (disorder) |
715724002 | Syndactyly type 2 (disorder) |
715725001 | Syndactyly type 3 (disorder) |
715727009 | Pituitary stalk interruption syndrome (disorder) |
715733000 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) |
715734006 | Congenital absence of half of thyroid (disorder) |
715769008 | Congenital retraction of eyelid (disorder) |
715771008 | Microphthalmos co-occurrent with congenital ocular coloboma (disorder) |
715780008 | Lissencephaly type 1 due to doublecortin gene mutation (disorder) |
71578002 | Steroid 21-monooxygenase deficiency, salt wasting type (disorder) |
715817007 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) |
715819005 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder) |
715820004 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder) |
715821000 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) |
715822007 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type F (disorder) |
715828006 | Proboscis lateralis (disorder) |
715861004 | Dysplasia of head of femur Meyer type (disorder) |
715862006 | Smith McCort dysplasia (disorder) |
715865008 | Familial isolated arrhythmogenic right ventricular dysplasia (disorder) |
715867000 | Pseudoaminopterin syndrome (disorder) |
715905006 | Unilateral polymicrogyria (disorder) |
715951007 | Acrocallosal syndrome (disorder) |
715952000 | Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) |
715963002 | Atrichia with papular lesions (disorder) |
715981004 | Autosomal recessive primary microcephaly (disorder) |
715985008 | Maxillonasal dysplasia syndrome (disorder) |
715986009 | Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) |
715987000 | Congenital heart defect with round face and developmental delay syndrome (disorder) |
715988005 | Cataract with aberrant oral frenula and growth delay syndrome (disorder) |
715989002 | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) |
715990006 | Agenesis of cerebellum and hydrocephalus syndrome (disorder) |
715991005 | Crane Heise syndrome (disorder) |
716006003 | Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) |
716007007 | Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder) |
716022002 | Frontofacionasal dysplasia syndrome (disorder) |
716023007 | Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) |
716024001 | Goniodysgenesis with intellectual disability and short stature syndrome (disorder) |
716089008 | Craniofacial digital and genital anomalies syndrome (disorder) |
716090004 | Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) |
716091000 | Holoprosencephaly and postaxial polydactyly syndrome (disorder) |
716092007 | Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) |
716094008 | Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
716096005 | Hypospadias and intellectual disability syndrome Goldblatt type (disorder) |
716097001 | Ichthyosis cheek eyebrow syndrome (disorder) |
716099003 | Absence deformity of leg and congenital cataract syndrome (disorder) |
716105001 | Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) |
716106000 | Limb body wall complex (disorder) |
716108004 | Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) |
716110002 | Upper limb defect with eye and ear abnormalities syndrome (disorder) |
716111003 | Mullerian duct and limb anomalies syndrome (disorder) |
716112005 | Microcephaly with deafness and intellectual disability syndrome (disorder) |
716165003 | Microcornea with corectopia and macular hypoplasia syndrome (disorder) |
716166002 | Microcornea with glaucoma and absent frontal sinus syndrome (disorder) |
716169009 | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
716170005 | Deafness with cataract and skeletal anomaly syndrome (disorder) |
716174001 | Oculocerebral hypopigmentation syndrome of Preus type (disorder) |
716180009 | Odontoma dysphagia syndrome (disorder) |
716189005 | Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) |
71619006 | Congenital absence of ear (disorder) |
716192009 | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) |
716193004 | Short stature with valvular heart disease and characteristic facies syndrome (disorder) |
716194005 | Pili torti with developmental delay and neurological abnormality syndrome (disorder) |
716195006 | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) |
716198008 | Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) |
716199000 | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) |
716230005 | Shprintzen Goldberg omphalocele syndrome (disorder) |
716231009 | Spondylocamptodactyly syndrome (disorder) |
716232002 | Autosomal dominant spondylocostal dysostosis (disorder) |
716233007 | Steinfeld syndrome (disorder) |
716238003 | Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
716243005 | Deafness with malformation of ear and facial palsy syndrome (disorder) |
716245003 | Deafness craniofacial syndrome (disorder) |
716248001 | Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) |
716249009 | Tetraamelia with multiple malformation syndrome (disorder) |
716279002 | Congenital duplication of nose (disorder) |
716280004 | Congenital tubular duplication of esophagus (disorder) |
716334004 | Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) |
716335003 | Congenital suprabulbar paresis (disorder) |
716337006 | Seaver Cassidy syndrome (disorder) |
716636008 | Longitudinal deficiency of part of upper limb (disorder) |
716696006 | Autosomal dominant centronuclear myopathy (disorder) |
716699004 | Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) |
716700003 | Epidermolysis bullosa simplex with circinate migratory erythema (disorder) |
716701004 | Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) |
716740009 | Potter sequence cleft lip and palate cardiopathy syndrome (disorder) |
716741008 | Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) |
716744000 | Familial hypospadias of penis (disorder) |
716773002 | Familial idiopathic dilatation of right atrium (disorder) |
716775009 | Nanophthalmia (disorder) |
716862002 | Proteus like syndrome (disorder) |
716868003 | Multicentric osteolysis nodulosis arthropathy spectrum (disorder) |
7169009 | Congenital supravalvular aortic stenosis (disorder) |
716996008 | Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) |
716997004 | Joubert syndrome (disorder) |
716998009 | Joubert syndrome with ocular defect (disorder) |
716999001 | Joubert syndrome with renal defect (disorder) |
717041008 | Syndromic recessive X-linked ichthyosis (disorder) |
717049005 | Trisomy 17p (disorder) |
717156002 | Biliary atresia with splenic malformation syndrome (disorder) |
717157006 | Trisomy 10p (disorder) |
717183001 | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) |
717184007 | Punctate palmoplantar keratoderma type 1 (disorder) |
717192003 | Familial digital arthropathy and brachydactyly syndrome (disorder) |
717221005 | Metaphyseal dysplasia Braun Tinschert type (disorder) |
717222003 | Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) |
717224002 | X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) |
717228004 | Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) |
717232005 | Caroli disease (disorder) |
717260007 | Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) |
717261006 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) |
717262004 | Isolated congenital alacrima (disorder) |
717264003 | Autosomal dominant brachyolmia (disorder) |
71728002 | Accessory liver (disorder) |
717330004 | Spondyloepimetaphyseal dysplasia Irapa type (disorder) |
717337001 | Syndromic hypoplasia of orbital border (disorder) |
717338006 | Koolen De Vries syndrome (disorder) |
717459000 | Congenital primary megaureter (disorder) |
717632002 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) |
717703006 | Bilateral congenital absence of ovary (disorder) |
717704000 | Bilateral congenital absence of fallopian tube (disorder) |
717705004 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) |
717742006 | Primary renal dysplasia (disorder) |
717744007 | Secondary renal dysplasia (disorder) |
717745008 | Bilateral secondary renal dysplasia (disorder) |
717748005 | Bilateral medullary sponge kidney (disorder) |
717750002 | Bilateral congenital primary hydronephrosis (disorder) |
717756008 | Complete duplication of urethra (disorder) |
717757004 | Partial duplication of urethra (disorder) |
717758009 | Congenital atresia and stenosis of ureter (disorder) |
717759001 | Congenital absence of bladder and urethra (disorder) |
717763008 | Chudley Lowry Hoar syndrome (disorder) |
717765001 | Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
717771007 | Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
717772000 | Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) |
717785002 | Coloboma of macula with brachydactyly type B syndrome (disorder) |
71779008 | X-linked hydrocephalus syndrome (disorder) |
717812000 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) |
717813005 | Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) |
717814004 | Glossopalatine ankylosis (disorder) |
717822006 | Goldberg Shprintzen megacolon syndrome (disorder) |
717823001 | Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) |
717835002 | Atresia of the esophagus without tracheoesophageal fistula (disorder) |
717850006 | Brachymelia of lower limb (disorder) |
717859007 | Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) |
717866008 | Arteriovenous malformation of stomach (disorder) |
717880001 | Arteriovenous malformation of duodenum (disorder) |
717884005 | Congenital diverticulum of duodenum (disorder) |
717886007 | Congenital malrotation of duodenum (disorder) |
717887003 | Biemond syndrome type 2 (disorder) |
717888008 | Hyperinsulinism due to focal adenomatous hyperplasia (disorder) |
717909004 | Bilateral microtia with deafness and cleft palate syndrome (disorder) |
717911008 | Blepharocheilodontic syndrome (disorder) |
717913006 | Blepharonasofacial malformation syndrome (disorder) |
717914000 | Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) |
717915004 | Blepharoptosis, myopia, ectopia lentis syndrome (disorder) |
717939009 | Anencephaly without rachischisis (disorder) |
717940006 | Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) |
717943008 | Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) |
717944002 | Branchiogenic deafness syndrome (disorder) |
717945001 | Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
717963001 | Isolated anterior cervical hypertrichosis (disorder) |
717977003 | Lissencephaly syndrome Norman Roberts type (disorder) |
718095000 | Schisis association syndrome (disorder) |
718099006 | Enlarged parietal foramina (disorder) |
718122005 | Piebaldism (disorder) |
718128009 | Congenital dysplasia of cardiac valve (disorder) |
718135001 | Isolated right ventricular hypoplasia (disorder) |
718178006 | Autosomal dominant limb girdle muscular dystrophy type 1B (disorder) |
718181001 | Congenital cardiac diverticulum (disorder) |
718211004 | Ehlers-Danlos syndrome kyphoscoliotic type (disorder) |
718216009 | Partial defect of atrioventricular canal (disorder) |
718222000 | Autosomal dominant popliteal pterygium syndrome (disorder) |
718226002 | Wolf Hirschhorn syndrome (disorder) |
718228001 | Fetal iodine syndrome (disorder) |
7183006 | Anophthalmos (disorder) |
718395009 | Defects of tubular bones and spine (disorder) |
718485003 | Congenital dilatation of ureter (disorder) |
718552009 | Familial median cleft of upper and lower lip (disorder) |
718556007 | Cranio-cerebello-cardiac dysplasia syndrome (disorder) |
718559000 | Acromesomelic dysplasia Maroteaux type (disorder) |
718572004 | Bethlem myopathy (disorder) |
718574003 | Cleft palate with coloboma of eye and deafness syndrome (disorder) |
718575002 | Ablepharon macrostomia syndrome (disorder) |
718576001 | Hydrocephalus with cleft palate and joint contracture syndrome (disorder) |
718577005 | X-linked intellectual disability Atkin type (disorder) |
718605009 | Congenital pontocerebellar hypoplasia type 7 (disorder) |
718606005 | Congenital pontocerebellar hypoplasia type 6 (disorder) |
718607001 | Congenital pontocerebellar hypoplasia type 5 (disorder) |
718608006 | Congenital pontocerebellar hypoplasia type 4 (disorder) |
718609003 | Congenital pontocerebellar hypoplasia type 3 (disorder) |
718610008 | Congenital pontocerebellar hypoplasia type 1 (disorder) |
718611007 | Congenital pontocerebellar hypoplasia type 8 (disorder) |
718631006 | Annular epidermolytic ichthyosis (disorder) |
718632004 | Self-healing collodion baby (disorder) |
718633009 | Acral self-healing collodion baby (disorder) |
718679004 | Mammary digital nail syndrome (disorder) |
718680001 | Oro-facial digital syndrome type 9 (disorder) |
718681002 | Oro-facial digital syndrome type 11 (disorder) |
718691008 | Isolated cryptophthalmos (disorder) |
718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) |
718719001 | Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) |
718720007 | Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) |
718759003 | Lissencephaly due to tubulin alpha 1A mutation (disorder) |
718761007 | Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) |
718763005 | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
718764004 | Spondyloepiphyseal dysplasia Reardon type (disorder) |
718765003 | Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
718766002 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
718851007 | Cataract glaucoma syndrome (disorder) |
718880003 | Zellweger-like syndrome without peroxisomal anomaly (disorder) |
718896000 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
718897009 | X-linked intellectual disability Seemanova type (disorder) |
718900002 | Syndromic X-linked intellectual disability type 11 (disorder) |
718908009 | X-linked intellectual disability Siderius type (disorder) |
718909001 | X-linked intellectual disability Stevenson type (disorder) |
718910006 | X-linked intellectual disability Stocco Dos Santos type (disorder) |
718911005 | X-linked intellectual disability Stoll type (disorder) |
71901000 | Congenital contracted pelvis (disorder) |
719011002 | X-linked intellectual disability Pai type (disorder) |
719012009 | X-linked intellectual disability Miles Carpenter type (disorder) |
719017003 | X-linked intellectual disability Armfield type (disorder) |
719018008 | X-linked intellectual disability Abidi type (disorder) |
719019000 | WT limb blood syndrome (disorder) |
719020006 | Pallister W syndrome (disorder) |
719021005 | DK phocomelia syndrome (disorder) |
719041000 | Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) |
719042007 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) |
719043002 | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) |
719044008 | Partial agenesis of pancreas (disorder) |
719046005 | 12q14 microdeletion syndrome (disorder) |
719047001 | 14q11.2 microdeletion syndrome (disorder) |
719069008 | Shprintzen Goldberg craniosynostosis syndrome (disorder) |
719096006 | Brittle cornea syndrome (disorder) |
719097002 | Branchioskeletogenital syndrome (disorder) |
719101006 | Carpenter Waziri syndrome (disorder) |
719102004 | Congenital cataract with ataxia and deafness syndrome (disorder) |
719104003 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) |
719136005 | X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) |
719138006 | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) |
719139003 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) |
719140001 | X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
719155005 | X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) |
719157002 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
719158007 | Syndactyly type 4 (disorder) |
719159004 | Syndactyly type 5 (disorder) |
719162001 | Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) |
719163006 | Accessory anterior naris (disorder) |
719165004 | Spondyloepimetaphyseal dysplasia aggrecan type (disorder) |
719166003 | Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) |
719171005 | Spondyloepimetaphyseal dysplasia Missouri type (disorder) |
719172003 | Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) |
719201004 | Spondyloepimetaphyseal dysplasia Shohat type (disorder) |
719202006 | Spondyloepiphyseal dysplasia tarda Kohn type (disorder) |
719203001 | Spondyloepiphyseal dysplasia Kimberley type (disorder) |
719204007 | Spondyloepiphyseal dysplasia Maroteaux type (disorder) |
719205008 | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) |
719211006 | Sparse hair with short stature and skin anomaly syndrome (disorder) |
719212004 | Smith Fineman Myers syndrome (disorder) |
719213009 | Short stature Brussels type (disorder) |
719255000 | Spinocerebellar ataxia type 34 (disorder) |
719256004 | Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
719258003 | Pyknoachondrogenesis (disorder) |
719268008 | Progressive non-infectious anterior vertebral fusion (disorder) |
719282008 | Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) |
719298001 | Pelvis shoulder dysplasia (disorder) |
719299009 | Pelviscapular dysplasia syndrome (disorder) |
719304005 | Spondylometaphyseal dysplasia Schmidt type (disorder) |
719305006 | Stapes ankylosis with broad thumb and toe syndrome (disorder) |
719306007 | Steatocystoma multiplex with natal tooth syndrome (disorder) |
719377004 | Microcephalus with albinism and digital anomaly syndrome (disorder) |
719378009 | Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
719379001 | Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
719380003 | Microcephalus cardiomyopathy syndrome (disorder) |
719394002 | Microcephalus cleft palate syndrome (disorder) |
719395001 | Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder) |
719397009 | Mesomelic dysplasia Kantaputra type (disorder) |
719398004 | Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
719400000 | Lethal faciocardiomelic dysplasia (disorder) |
719402008 | Lethal hemolytic anemia and genital anomaly syndrome (disorder) |
719404009 | Lethal recessive chondrodysplasia (disorder) |
719405005 | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) |
719408007 | Lethal omphalocele with cleft palate syndrome (disorder) |
719409004 | Lethal Larsen-like syndrome (disorder) |
719429003 | Ectodermal dysplasia with acanthosis nigricans syndrome (disorder) |
719432000 | Late-onset junctional epidermolysis bullosa (disorder) |
719450007 | Disorder of sex development with intellectual disability syndrome (disorder) |
719452004 | Congenital bronchobiliary fistula (disorder) |
719456001 | Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
719466009 | Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
719468005 | Cleft palate with stapes fixation and oligodontia syndrome (disorder) |
719471002 | Cleidorhizomelic syndrome (disorder) |
719475006 | Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) |
719518004 | Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) |
71953008 | Congenital anomaly of broad ligament (disorder) |
719595002 | Absence of fingerprints with congenital milia syndrome (disorder) |
719664004 | 8q22.1 microdeletion syndrome (disorder) |
719685004 | Absent thumb with short stature and immunodeficiency syndrome (disorder) |
719687007 | Gingival fibromatosis with facial dysmorphism syndrome (disorder) |
719688002 | Multiple epiphyseal dysplasia Al-Gazali type (disorder) |
719689005 | Multiple epiphyseal dysplasia Beighton type (disorder) |
71973003 | Congenital aplasia of inner ear (disorder) |
719800009 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
719811001 | X-linked intellectual disability Cabezas type (disorder) |
719812008 | X-linked intellectual disability with plagiocephaly syndrome (disorder) |
719813003 | X-linked mandibulofacial dysostosis (disorder) |
719815005 | X-linked myopathy with excessive autophagy (disorder) |
719819004 | Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
719823007 | Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
719824001 | Vici syndrome (disorder) |
719825000 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
719833004 | Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
719834005 | Wilson Turner syndrome (disorder) |
719835006 | Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) |
719836007 | X-linked distal arthrogryposis multiplex congenita (disorder) |
719837003 | X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) |
719840003 | Renal dysplasia with limb defect syndrome (disorder) |
719842006 | Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) |
719843001 | Ulna fibula ray defect and brachydactyly syndrome (disorder) |
719844007 | Ulceration of umbilical cord and atresia of intestine syndrome (disorder) |
719845008 | Van den Ende-Gupta syndrome (disorder) |
71988008 | Aase syndrome (disorder) |
7199000 | Tuberous sclerosis syndrome (disorder) |
719907006 | Timothy syndrome type 2 (disorder) |
719909009 | Chromosome Xq28 trisomy syndrome (disorder) |
719910004 | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) |
719911000 | Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
719944006 | Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) |
719945007 | Taurodontia with absent teeth and sparse hair syndrome (disorder) |
719946008 | Tel Hashomer camptodactyly syndrome (disorder) |
719947004 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) |
719948009 | Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) |
719949001 | Trigonocephaly with broad thumb syndrome (disorder) |
719950001 | Triphalangeal thumb and polysyndactyly syndrome (disorder) |
719951002 | Triphalangeal thumb with brachyectrodactyly syndrome (disorder) |
719972004 | Haddad syndrome (disorder) |
719973009 | Haim Munk syndrome (disorder) |
719985001 | Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) |
719986000 | Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) |
719987009 | Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) |
719988004 | Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) |
719989007 | Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) |
719990003 | Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) |
720009004 | Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) |
720010009 | Microphthalmia with brain atrophy syndrome (disorder) |
72014004 | Abnormal fetal duplication (disorder) |
720345008 | Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) |
720394008 | Congenital tracheobiliary fistula (disorder) |
720408003 | Acrofrontofacionasal dysostosis (disorder) |
720410001 | Acrootoocular syndrome (disorder) |
720412009 | Acropectoral syndrome (disorder) |
720414005 | Acrorenal mandibular syndrome (disorder) |
720415006 | Acrorenoocular syndrome (disorder) |
720416007 | Acrocapitofemoral dysplasia (disorder) |
720417003 | Acrocephalopolydactyly (disorder) |
720418008 | Acrocraniofacial dysostosis (disorder) |
720419000 | Acrofacial dysostosis Catania type (disorder) |
720427009 | Acrofacial dysostosis Kennedy Teebi type (disorder) |
720429007 | Acrofacial dysostosis Palagonia type (disorder) |
720430002 | Acrofacial dysostosis Rodriguez type (disorder) |
720456009 | Acromegaloid facial appearance syndrome (disorder) |
720457000 | Acropectorovertebral dysplasia (disorder) |
720458005 | Acrorenal syndrome (disorder) |
720463009 | Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
720464003 | Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
720467005 | Aniridia and absent patella syndrome (disorder) |
720468000 | Aniridia and intellectual disability syndrome (disorder) |
720492008 | Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) |
720494009 | Anonychia with microcephaly syndrome (disorder) |
720495005 | Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) |
720496006 | Anophthalmia plus syndrome (disorder) |
720498007 | Aphalangy and syndactyly with microcephaly syndrome (disorder) |
720499004 | Aplasia cutis with myopia syndrome (disorder) |
720500008 | Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) |
720501007 | Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
720502000 | Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) |
720511000 | Arrhinia with choanal atresia and microphthalmia syndrome (disorder) |
720513002 | Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
720514008 | Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
720518006 | Athabaskan brainstem dysgenesis syndrome (disorder) |
720520009 | Attenuated Chédiak-Higashi syndrome (disorder) |
720565000 | Bohring Opitz syndrome (disorder) |
720567008 | Bosley Salih Alorainy syndrome (disorder) |
720568003 | Brachydactyly and arterial hypertension syndrome (disorder) |
720569006 | Brachydactyly type A2 (disorder) |
720570007 | Brachydactyly type A5 (disorder) |
720571006 | Brachydactyly type A7 (disorder) |
720572004 | Brachydactyly with syndactyly Zhao type (disorder) |
720573009 | Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) |
720574003 | Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) |
720575002 | Braddock syndrome (disorder) |
720576001 | Brain calcification Rajab type (disorder) |
720598005 | Doughnut lesion of calvaria and bone fragility syndrome (disorder) |
720599002 | Campomelia Cumming type (disorder) |
720600004 | Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
720601000 | Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
720602007 | Camptodactyly syndrome Guadalajara type 1 (disorder) |
720603002 | Camptodactyly syndrome Guadalajara type 2 (disorder) |
720605009 | Cardiac anomaly and heterotaxy syndrome (disorder) |
720606005 | Cardiocranial syndrome Pfeiffer type (disorder) |
720610008 | Cardiomyopathy and renal anomaly syndrome (disorder) |
720612000 | Cardiospondylocarpofacial syndrome (disorder) |
720632004 | Central bilateral macrogyria (disorder) |
720633009 | Syndactyly type 7 (disorder) |
720634003 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) |
720635002 | Cerebro-facio-thoracic dysplasia (disorder) |
720636001 | Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
720639008 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
720640005 | Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
720746006 | Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) |
720747002 | Cooks syndrome (disorder) |
720748007 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) |
720752007 | Coxopodopatellar syndrome (disorder) |
720753002 | Cranioosteoarthropathy (disorder) |
720754008 | Craniofacial conodysplasia syndrome (disorder) |
720755009 | Craniofacial dyssynostosis syndrome (disorder) |
720756005 | Craniofacial ulnar renal syndrome (disorder) |
720757001 | Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
720812002 | Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) |
720813007 | Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) |
720815000 | Capra DeMarco syndrome (disorder) |
720816004 | Craniosynostosis and intracranial calcification syndrome (disorder) |
720817008 | Craniosynostosis Boston type (disorder) |
720818003 | Craniosynostosis Philadelphia type (disorder) |
720819006 | Curry Jones syndrome (disorder) |
720825005 | Cystic leukoencephalopathy without megalencephaly (disorder) |
720826006 | Czech dysplasia metatarsal type (disorder) |
720850008 | Choroidal atrophy and alopecia syndrome (disorder) |
720851007 | Chondrodysplasia with disorder of sex development syndrome (disorder) |
720852000 | Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) |
720853005 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) |
720855003 | Cerebrooculonasal syndrome (disorder) |
720856002 | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
720858001 | Ehlers-Danlos syndrome cardiac valvular type (disorder) |
720859009 | Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) |
720860004 | Ehlers-Danlos syndrome musculocontractural type (disorder) |
720861000 | Ehlers-Danlos syndrome progeroid type (disorder) |
720863002 | Eiken syndrome (disorder) |
72089000 | Congenital deformity of nose (disorder) |
720952001 | Aplasia of fibula and ectrodactyly syndrome (disorder) |
720953006 | Fibular dimelia diplopodia syndrome (disorder) |
720954000 | Filippi syndrome (disorder) |
720955004 | Fine Lubinsky syndrome (disorder) |
720957007 | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
720958002 | Frank-Ter Haar syndrome (disorder) |
720979002 | Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
720980004 | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) |
720981000 | Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
720983002 | Amaurosis hypertrichosis syndrome (disorder) |
720984008 | Angel-shaped phalangoepiphyseal dysplasia (disorder) |
720986005 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) |
720987001 | Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) |
721007005 | Hair defect with photosensitivity and intellectual disability syndrome (disorder) |
721008000 | Hall Riggs syndrome (disorder) |
721009008 | Heart defect and limb shortening syndrome (disorder) |
721010003 | Heart-hand syndrome type 2 (disorder) |
721013001 | Heart-hand syndrome type 3 (disorder) |
721014007 | Heart-hand syndrome Slovenian type (disorder) |
721015008 | Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) |
721017000 | Postaxial polydactyly and intellectual disability syndrome (disorder) |
721057002 | Thoracic insufficiency syndrome (disorder) |
721069005 | Short fifth metacarpal insulin resistance syndrome (disorder) |
721072003 | Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) |
721073008 | Short stature with webbed neck and congenital heart disease syndrome (disorder) |
721075001 | Short tarsus with absence of lower eyelashes syndrome (disorder) |
721076000 | Siegler Brewer Carey syndrome (disorder) |
721082002 | Dacryocystitis and osteopoikilosis syndrome (disorder) |
721083007 | Lymphedema hypoparathyroidism syndrome (disorder) |
721084001 | Deaf blind hypopigmentation syndrome Yemenite type (disorder) |
721085000 | Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
721086004 | Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
721087008 | Deafness and intellectual disability Martin Probst type syndrome (disorder) |
721089006 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
721090002 | Dermatoosteolysis Kirghizian type (disorder) |
721091003 | Dermo-odonto dysplasia (disorder) |
721092005 | Developmental malformation, deafness, dystonia syndrome (disorder) |
721094006 | Diaphanospondylodysostosis (disorder) |
721095007 | Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) |
721096008 | Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) |
721105004 | Klippel Trenaunay syndrome (disorder) |
721146009 | Intellectual disability, epilepsy, bulbous nose syndrome (disorder) |
721147000 | Hidrotic ectodermal dysplasia Halal type (disorder) |
721148005 | Hip dysplasia Beukes type (disorder) |
721152005 | Congenital absence of gastric muscle (disorder) |
721155007 | Congenital short esophagus (disorder) |
721161005 | Duplication cyst of esophagus (disorder) |
721182004 | Long gap atresia of esophagus (disorder) |
721208007 | Ectodermal dysplasia with blindness syndrome (disorder) |
721221000 | Hirschsprung disease with deafness and polydactyly syndrome (disorder) |
721222007 | Hirschsprung disease with type D brachydactyly syndrome (disorder) |
721223002 | Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) |
721224008 | Holmes Gang syndrome (disorder) |
721227001 | Hunter McAlpine craniosynostosis syndrome (disorder) |
721229003 | Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) |
721231007 | Hydrocephalus with obesity and hypogonadism syndrome (disorder) |
721232000 | Hydrolethalus syndrome (disorder) |
721233005 | Hypergonadotropic hypogonadism with cataract syndrome (disorder) |
721296004 | Fuhrmann syndrome (disorder) |
721297008 | Galloway Mowat syndrome (disorder) |
721584005 | Johnson neuroectodermal syndrome (disorder) |
721608001 | Hirschsprung disease of rectosigmoid region (disorder) |
721609009 | Extensive aganglionosis Hirschsprung disease (disorder) |
721647004 | Congenital diverticulosis of small intestine (disorder) |
721648009 | Congenital diverticulum of small intestine (disorder) |
721649001 | Atresia of jejunum type IIIb (disorder) |
721650001 | Atresia of jejunum type IV (disorder) |
721688004 | Arteriovenous malformation of large intestine (disorder) |
721835008 | Acrofrontofacionasal dysostosis type 2 (disorder) |
721836009 | Hypertelorism with microtia and facial clefting syndrome (disorder) |
721837000 | Hypertrichosis and acromegaloid facial appearance syndrome (disorder) |
721843003 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
721845005 | Hypomandibular faciocranial dysostosis (disorder) |
721846006 | Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
721847002 | Joubert syndrome with congenital hepatic fibrosis (disorder) |
721862000 | Joubert syndrome with oculorenal defect (disorder) |
721873007 | Joubert syndrome with orofaciodigital defect (disorder) |
721874001 | Juberg Hayward syndrome (disorder) |
721875000 | Juberg Marsidi syndrome (disorder) |
721878003 | Microphthalmia with brain and digit anomaly (disorder) |
721879006 | Microphthalmia with linear skin defect syndrome (disorder) |
721880009 | Congenital microgastria with limb reduction defect syndrome (disorder) |
721882001 | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) |
721883006 | Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
721887007 | Puerto Rican infant hypotonia syndrome (disorder) |
721888002 | Scalp, ear, nipple syndrome (disorder) |
721902002 | Schilbach Rott syndrome (disorder) |
721903007 | Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) |
721970009 | Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) |
721972001 | Limb mammary syndrome (disorder) |
721973006 | Lipodystrophy, intellectual disability, deafness syndrome (disorder) |
721974000 | Lowry MacLean syndrome (disorder) |
721975004 | Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) |
721976003 | Lung agenesis with heart defect and thumb anomaly syndrome (disorder) |
721977007 | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) |
721978002 | Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
721979005 | Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) |
722002002 | Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) |
722003007 | Intellectual disability with cataract and kyphosis syndrome (disorder) |
722004001 | Agenesis of internal carotid artery (disorder) |
722006004 | Isotretinoin embryopathy-like syndrome (disorder) |
722019000 | Oculootoradial syndrome (disorder) |
722027009 | Kallman syndrome with heart disease (disorder) |
722031003 | Kapur Toriello syndrome (disorder) |
722032005 | Karsch Neugebauer syndrome (disorder) |
722033000 | Macrocephaly, short stature, paraplegia syndrome (disorder) |
722035007 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) |
722036008 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) |
722037004 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) |
722051004 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) |
722054007 | Ocular albinism with late-onset sensorineural deafness (disorder) |
722055008 | Oculopalatocerebral syndrome (disorder) |
722056009 | Oculocerebrofacial syndrome Kaufman type (disorder) |
722057000 | Oculocutaneous albinism type 5 (disorder) |
722058005 | Oculocutaneous albinism type 6 (disorder) |
722059002 | Oculocutaneous albinism type 7 (disorder) |
722060007 | Oculogastrointestinal muscular dystrophy (disorder) |
722061006 | Oculoosteocutaneous syndrome (disorder) |
722062004 | Oculotrichodysplasia (disorder) |
722063009 | Odonto-tricho-ungual-digito-palmar syndrome (disorder) |
722064003 | Odontoleukodystrophy (disorder) |
722065002 | Okamoto syndrome (disorder) |
722075004 | Oro-facial digital syndrome type 10 (disorder) |
722105002 | Oro-facial digital syndrome type 5 (disorder) |
722106001 | Oro-facial digital syndrome type 8 (disorder) |
722107005 | Ossification anomaly with psychomotor developmental delay syndrome (disorder) |
722108000 | Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) |
722109008 | Osteocraniostenosis (disorder) |
722110003 | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) |
722111004 | Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) |
722113001 | Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) |
722114007 | Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder) |
722117000 | Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) |
722122000 | Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) |
722132007 | Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) |
722201004 | Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) |
722202006 | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) |
722203001 | Palmoplantar keratoderma with deafness syndrome (disorder) |
722205008 | Palmoplantar keratoderma Nagashima type (disorder) |
722206009 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) |
722207000 | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
722209002 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
722210007 | Parastremmatic dwarfism (disorder) |
722211006 | Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) |
722213009 | Severe X-linked intellectual disability Gustavson type (disorder) |
722231005 | Perlman syndrome (disorder) |
722280000 | Ackerman syndrome (disorder) |
722281001 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) |
722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) |
722283003 | Agnathia, holoprosencephaly, situs inversus syndrome (disorder) |
722284009 | Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
722285005 | Albinism with deafness syndrome (disorder) |
722287002 | Autism and facial port-wine stain syndrome (disorder) |
722296002 | Book syndrome (disorder) |
722298001 | Ballard syndrome (disorder) |
722375007 | Bamforth Lazarus syndrome (disorder) |
722376008 | Autosomal recessive popliteal pterygium syndrome (disorder) |
722378009 | Congenital cataract with deafness and hypogonadism syndrome (disorder) |
722379001 | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) |
722380003 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) |
722381004 | Congenital cataract, nephropathy, encephalopathy syndrome (disorder) |
722382006 | Cataract and microcornea syndrome (disorder) |
722383001 | Catel Manzke syndrome (disorder) |
722385008 | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
722389002 | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
722390006 | Congenital intrauterine infection-like syndrome (disorder) |
72239002 | Long narrow head (disorder) |
72242008 | Postductal coarctation of aorta (disorder) |
722429003 | Distal limb deficiency with micrognathia syndrome (disorder) |
722431007 | Double uterus, hemivagina, renal agenesis syndrome (disorder) |
722432000 | Duane anomaly, myopathy, scoliosis syndrome (disorder) |
722433005 | Dyschondrosteosis and nephritis syndrome (disorder) |
722434004 | Dysspondyloenchondromatosis (disorder) |
722436002 | Dystrophic epidermolysis bullosa nails only (disorder) |
722437006 | Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) |
722439009 | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) |
722450007 | Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
722451006 | Gomez Lopez Hernandez syndrome (disorder) |
722452004 | Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
722453009 | Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) |
722454003 | Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
722455002 | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) |
722456001 | Intellectual disability, developmental delay, contracture syndrome (disorder) |
722457005 | Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) |
722458000 | Matthew Wood syndrome (disorder) |
722459008 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
722461004 | Meacham syndrome (disorder) |
722463001 | Macular coloboma, cleft palate, hallux valgus syndrome (disorder) |
722476007 | Thickened earlobe with conductive deafness syndrome (disorder) |
722477003 | Toriello Carey syndrome (disorder) |
722478008 | Skeletal dysplasia with intellectual disability syndrome (disorder) |
722493007 | Familial caudal dysgenesis (disorder) |
72252007 | Congenital hypoplasia of cardiac vein (disorder) |
722604002 | Optic disc dysplasia (disorder) |
722675000 | Laryngo-onycho-cutaneous syndrome (disorder) |
722853000 | Immature ganglionosis of large intestine (disorder) |
722854006 | Congenital hypoganglionosis of large intestine (disorder) |
722860006 | Congenital perineal groove (disorder) |
722868004 | Congenital developmental anomaly of cystic duct (disorder) |
722912007 | Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) |
722913002 | Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) |
72292009 | Congenital anomaly of larynx (disorder) |
722989007 | Aplasia of optic nerve (disorder) |
722992006 | Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) |
722996009 | Congenital malformation of autonomic nervous system (disorder) |
723131006 | Megalopapilla (disorder) |
723163000 | Basal epidermolysis bullosa simplex (disorder) |
723183004 | Aganglionosis of large intestine (disorder) |
72352009 | Bicuspid aortic valve (disorder) |
72424001 | Congenital absence of diaphragm (disorder) |
72425000 | Bilateral left-sidedness sequence (disorder) |
72523005 | X-linked ichthyosis with steryl-sulfatase deficiency (disorder) |
72535009 | Cervical rib (disorder) |
72855002 | Congenital prognathism (disorder) |
72881003 | Megaloappendix (disorder) |
72913007 | Moore-Federman syndrome (disorder) |
72922008 | Short rib-polydactyly syndrome, Majewski type (disorder) |
72925005 | Congenital cystic disease of liver (disorder) |
72948000 | Congenital anomaly of epiglottis (disorder) |
72951007 | Gastroschisis (disorder) |
7305005 | Coarctation of aorta (disorder) |
7322007 | Accessory adrenal cortex (disorder) |
73284007 | Marshall-Smith syndrome (disorder) |
73291005 | Congenital absence of parathyroid gland (disorder) |
73331006 | Hemimyelia (disorder) |
73371000119103 | First branchial cleft cyst (disorder) |
73381000119100 | Second branchial cleft cyst (disorder) |
73391000119102 | Third branchial cleft cyst (disorder) |
734001 | Opocephalus (disorder) |
73465006 | Congenital absence of germinal epithelium of testes (disorder) |
73573004 | Congenital anomaly of musculoskeletal system (disorder) |
73660006 | Congenital subaortic stenosis (disorder) |
7368005 | Double outlet left ventricle (disorder) |
73699003 | Common arterial trunk and common origin of pulmonary arteries (disorder) |
73943003 | Congenital malposition of digestive organs (disorder) |
74012004 | Congenital anomaly of pituitary gland (disorder) |
74034002 | Isolated dextrocardia (disorder) |
74218008 | Coronary artery arising from main pulmonary artery (disorder) |
74223008 | Congenital scar (disorder) |
74245009 | Congenital absence of fibula (disorder) |
74307005 | Opodidymus (disorder) |
74320008 | Woolf's syndrome (disorder) |
74370006 | Micromelia (disorder) |
7438000 | Congenital atresia of aorta (disorder) |
74388003 | Manus flexa (disorder) |
74516008 | Craniopagus (disorder) |
74561007 | Kommerell's diverticulum (disorder) |
7458004 | Diplopodia (disorder) |
74594005 | Crossed renal ectopia (disorder) |
74622009 | Congenital short hard palate (disorder) |
74650009 | Jugular lymphatic obstruction sequence (disorder) |
74788000 | Tongue absent (disorder) |
7481002 | Congenital atresia of epiglottis (disorder) |
74820003 | Congenital coxa vara (disorder) |
74829002 | Persistent cloaca (disorder) |
7484005 | Double outlet right ventricle (disorder) |
74877002 | Congenital anomaly of spine (disorder) |
74908007 | Congenital absence of inferior vena cava (disorder) |
74911008 | Dyskeratosis congenita (disorder) |
74919005 | Congenital stricture of ureter (disorder) |
74928006 | Camptomelic dysplasia (disorder) |
74969002 | Congenital ectopic lens (disorder) |
75049004 | Jeune thoracic dystrophy (disorder) |
75065003 | Endemic cretinism (disorder) |
75072002 | Nemaline myopathy (disorder) |
75076004 | Amyelencephalus (disorder) |
75164001 | Pseudohermaphroditism (disorder) |
7522008 | Persistent tuberculum impar (disorder) |
75231006 | Congenital absence of eustachian tube (disorder) |
75270000 | Congenital diverticulum of left ventricle (disorder) |
75311005 | Congenital absence of ossicles of ear (disorder) |
75340008 | Congenital keratoconus posticus circumscriptus (disorder) |
75355004 | Congenital atresia of external auditory canal (disorder) |
75372006 | Congenital anomaly of mitral valve (disorder) |
75398000 | Anomalous origin of coronary artery (disorder) |
75474006 | Congenital absence of nipple (disorder) |
75491005 | Amyotrophia congenita (disorder) |
75511006 | Congenital deformity of chest wall (disorder) |
75617000 | Omphalopagus (disorder) |
75633002 | Congenital anoperineal fistula (disorder) |
75654009 | Benign autosomal dominant osteopetrosis (disorder) |
75667007 | Lingual goiter (disorder) |
75875004 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) |
7589002 | Brachymegalodactyly (disorder) |
75922002 | Congenital anomaly of ossicles of ear (disorder) |
75937003 | Congenital absence of anus (disorder) |
75950002 | Brachymetacarpia (disorder) |
75968004 | Sotos' syndrome (disorder) |
75979009 | Johanson-Blizzard syndrome (disorder) |
7601009 | Double urinary meatus (disorder) |
7603007 | Platyspondylia (disorder) |
76074006 | Agenesis of right lung (disorder) |
76089002 | Symmetrical conjoined twins (disorder) |
7611002 | Septo-optic dysplasia sequence (disorder) |
76223006 | Bat ear (disorder) |
76257003 | Bicuspid cardiac valve (disorder) |
76280006 | Rudimentary tracheal bronchus (disorder) |
76401000119105 | Congenital anomaly of ureter and renal pelvis (disorder) |
76520005 | Robinow syndrome (disorder) |
76556008 | Hyperphosphatasia-osteoectasia syndrome (disorder) |
76562003 | Congenital subcapsular cataract (disorder) |
76670001 | Duchenne muscular dystrophy (disorder) |
76744005 | Longitudinal deficiency of fibula (disorder) |
76842000 | Complete aphalangia of upper limb (disorder) |
76880004 | Angelman syndrome (disorder) |
76916001 | Spina bifida occulta (disorder) |
77016009 | Amyoplasia congenita disruptive sequence (disorder) |
77097004 | Oculopharyngeal muscular dystrophy (disorder) |
7720002 | Metaphyseal chondrodysplasia, McKusick type (disorder) |
7722005 | Thoracopagus epigastricus (disorder) |
77224008 | Spina bifida of lumbar region (disorder) |
7727004 | Acephalorhachia (disorder) |
7731005 | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) |
77311006 | Omphaloangiopagus (disorder) |
77414002 | Cheilognathoschisis (disorder) |
77471004 | Synotus (disorder) |
77480004 | Congenital biliary atresia (disorder) |
77542002 | Grebe syndrome (disorder) |
77593006 | Congenital bronchiectasis (disorder) |
77608001 | Baller-Gerold syndrome (disorder) |
7762009 | Paraspadias (disorder) |
7763004 | Dicephalus dipus tribrachius (disorder) |
77696009 | Double aortic valve (disorder) |
77701002 | Multiple malformation syndrome, moderate short stature, facial (disorder) |
77761000 | Congenital absence of ureter (disorder) |
77782006 | Syphilitic saddle nose (disorder) |
77817004 | Neu-Laxova syndrome (disorder) |
77956009 | Steinert myotonic dystrophy syndrome (disorder) |
77976003 | Pygomelus (disorder) |
77978002 | Persistent left superior vena cava (disorder) |
78018008 | Complete phocomelia of upper limb (disorder) |
78044008 | Atlanto-occipital malformation (disorder) |
78071008 | Hydromicrocephaly (disorder) |
78196008 | Double mitral valve (disorder) |
78250005 | Ectopia cordis (disorder) |
78314001 | Osteogenesis imperfecta (disorder) |
78320000 | Quadricuspid cardiac valve (disorder) |
78372005 | Intrahepatic gallbladder (disorder) |
78393008 | Rudimentary finger (disorder) |
78485007 | Acyanotic congenital heart disease (disorder) |
78494001 | Amelogenesis imperfecta (disorder) |
78495000 | Cleft leaflet of mitral valve (disorder) |
78572006 | Neurocutaneous syndrome (disorder) |
78626001 | Congenital anomaly of trunk (disorder) |
78642008 | Ocular albinism, type I (disorder) |
78675000 | Stickler syndrome (disorder) |
78693004 | Congenital hypoplasia of part of brain (disorder) |
78728005 | Gastrothoracopagus (disorder) |
78753008 | Globulo-maxillary cyst (disorder) |
78784005 | Amyelia (disorder) |
78921008 | Autosomal recessive ocular albinism (disorder) |
7903009 | Hallermann-Streiff syndrome (disorder) |
79037006 | Accessory pancreas (disorder) |
79120002 | Congenital elevation of scapula (disorder) |
79168008 | Congenital genu varum (disorder) |
79177001 | Congenital absence of tibia (disorder) |
79191007 | Congenital anomaly of muscle AND/OR tendon (disorder) |
7921007 | Congenital deformity of clavicle (disorder) |
79214007 | Bifid patella (disorder) |
79244005 | Lumbosacral prespondylolisthesis (disorder) |
79261008 | Van der Woude syndrome (disorder) |
79385002 | Lowe syndrome (disorder) |
79407008 | Asymmetric talipes (disorder) |
79410001 | Congenital cataract (disorder) |
79439001 | Congenital anomaly of aortic arch (disorder) |
79468000 | Familial benign pemphigus (disorder) |
79510004 | Congenital displacement of esophagus (disorder) |
79552009 | Congenital duplication of liver (disorder) |
79665007 | Wildervanck syndrome (disorder) |
79702003 | Monocephalus tetrapus dibrachius (disorder) |
79788002 | Atresia of urinary meatus (disorder) |
79807003 | Talipes valgus (disorder) |
79833006 | Blepharophimosis syndrome (disorder) |
79855003 | Congenital junctional epidermolysis bullosa (disorder) |
7991000119102 | Congenital dilatation of aortic root (disorder) |
79969004 | Congenital hallux varus (disorder) |
79977000 | Congenital atresia of broad ligament (disorder) |
80281008 | Cleft lip (disorder) |
8032007 | Congenital anomaly of thyroid cartilage (disorder) |
80387009 | Roger's disease (disorder) |
80432009 | Porokeratosis of Mibelli (disorder) |
80446009 | Complete bilateral cleft lip (disorder) |
80533002 | Uterus bicornuatus vetularum (disorder) |
80651009 | Aicardi's syndrome (disorder) |
80667003 | Juvenile pelvis (disorder) |
80700005 | Floating gallbladder (disorder) |
80712009 | Congenital spondylolysis of lumbosacral region (disorder) |
80734006 | Marinesco-Sjögren syndrome (disorder) |
80773006 | Escobar syndrome (disorder) |
80797002 | Congenital stricture of vesicourethral orifice (disorder) |
80825009 | Congenital hypoplasia of lung (disorder) |
80880002 | Omphalomesenteric duct cyst (disorder) |
81042008 | Congenital anomaly of spinal cord (disorder) |
81103005 | Congenital atresia of vein (disorder) |
81107006 | Congenital diverticulum of bladder (disorder) |
81208006 | Ectrodactyly (disorder) |
81307004 | Ischiomelus (disorder) |
81330005 | Polysyndactyly syndrome (disorder) |
81336004 | Congenital anomaly of abdominal wall (disorder) |
81526008 | Hydromeningomyelocele (disorder) |
81539007 | Metatarsus primus varus (disorder) |
81577001 | Congenital anomaly of inferior vena cava (disorder) |
81604003 | Mulibrey nanism syndrome (disorder) |
81700000 | Hemimelia of lower limb (disorder) |
81771002 | Opitz-Frias syndrome (disorder) |
81780002 | Beckwith-Wiedemann syndrome (disorder) |
81793007 | Polydactyly of fingers (disorder) |
81990004 | Cor biloculare (disorder) |
82007007 | Thoracoparacephalus (disorder) |
82077006 | Myotubular myopathy (disorder) |
82203000 | Treacher Collins syndrome (disorder) |
82236004 | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) |
82342003 | Yellow mutant oculocutaneous albinism (disorder) |
82351006 | Craniotabes (disorder) |
82354003 | Multiple system malformation syndrome (disorder) |
8239009 | Primary endocardial fibroelastosis (disorder) |
82393007 | Giant esophagus (disorder) |
82520000 | Embryonic cyst of Gartner's duct (disorder) |
82525005 | Congenital cystic kidney disease (disorder) |
82635007 | Accessory urethra (disorder) |
82642007 | Segmental uterine aplasia (disorder) |
82663009 | Osteopathia striata (disorder) |
82699004 | Dyggve-Melchior-Clausen syndrome (disorder) |
82785005 | Astragaloscaphoid synostosis (disorder) |
82820009 | Congenital anomaly of prostate (disorder) |
82821008 | Congenital atresia of extrahepatic bile duct (disorder) |
82837002 | Kenny syndrome (disorder) |
82949000 | Congenital absence of pancreas (disorder) |
8301004 | Caudal dysplasia sequence (disorder) |
83015004 | Saethre-Chotzen syndrome (disorder) |
83028006 | Congenital partial absence of alimentary tract (disorder) |
83031000119105 | Congenital malformation of nasal septum (disorder) |
83119008 | Congenital insufficiency of tricuspid valve (disorder) |
83145004 | Abnormal dermatoglyphic pattern (disorder) |
83190008 | Congenital absence of adrenal gland (disorder) |
83228001 | Congenital anomaly of spermatic cord (disorder) |
83330001 | Patent ductus arteriosus (disorder) |
83470009 | Ehlers-Danlos syndrome, type 1 (disorder) |
83546008 | Congenital anomaly of breast (disorder) |
83579008 | Mixed gonadal dysgenesis (disorder) |
83586000 | Ehlers-Danlos syndrome, dysfibronectinemic (disorder) |
83714006 | Congenital microgastria (disorder) |
8375009 | Maxillary retrognathism (disorder) |
83799000 | Corrected transposition of great vessels (disorder) |
841002 | Congenital absence of skull bone (disorder) |
84150000 | Arteriovenous malformation of liver (disorder) |
84296002 | Congenital atresia of small intestine (disorder) |
84461004 | Exencephaly (disorder) |
8447006 | Congenital anomaly of skeletal bone (disorder) |
84557007 | Bifid tongue (disorder) |
84589003 | Pygodidymus (disorder) |
84598000 | Polysyndactyly (disorder) |
84648007 | Acardius (disorder) |
84773003 | Congenital anomaly of lower limb (disorder) |
84781002 | Sporadic cretinism (disorder) |
84814009 | Streak gonad (disorder) |
84873005 | Dural arteriovenous malformation (disorder) |
84918006 | Congenital absence of radius (disorder) |
85029000 | Congenital anomaly of fallopian tubes (disorder) |
85081000 | Common arterial trunk and widely separate origin of pulmonary arteries (disorder) |
85150007 | Uterus bicameratus vetularum (disorder) |
85280007 | Congenital hammer toe (disorder) |
85437001 | Congenital hypoplasia of testis (disorder) |
85445006 | Dicephalus dipus tetrabrachius (disorder) |
85479007 | Color changes during tooth formation (disorder) |
85589009 | Radial aplasia-thrombocytopenia syndrome (disorder) |
85630009 | Craniopagus occipitalis (disorder) |
85641006 | Hemianencephaly (disorder) |
8569001 | Syncephalus (disorder) |
85700008 | Microhepatia (disorder) |
8587003 | Congenital diverticulum of colon (disorder) |
85901000 | Megacalycosis (disorder) |
86042009 | Congenital melanosis (disorder) |
8611000119100 | Complex craniosynostosis (disorder) |
86204009 | Immotile cilia syndrome (disorder) |
86252004 | Agenesis of pulmonary artery (disorder) |
86268005 | Achondroplasia (disorder) |
86280002 | Thoracomelus (disorder) |
86299006 | Tetralogy of Fallot (disorder) |
8634009 | Distichiasis-lymphedema syndrome (disorder) |
86345004 | Bertolotti's syndrome (disorder) |
86443005 | Hutchinson's teeth (disorder) |
86463003 | Solitary multilocular renal cyst (disorder) |
86470003 | Osteogenesis imperfecta, recessive perinatal lethal (disorder) |
8649001 | Congenital anomaly of thoracic cage (disorder) |
86507001 | Congenital absence of gallbladder (disorder) |
86527000 | Hypoplasia of eye (disorder) |
8654005 | Ectodermal dysplasia (disorder) |
86595004 | Congenital mesocolic hernia (disorder) |
86610004 | Frontonasal dysplasia sequence (disorder) |
86635005 | Kasabach-Merritt syndrome (disorder) |
86667008 | Ehlers-Danlos syndrome, dominant type 4 (disorder) |
86818009 | Congenital ankylosis of elbow (disorder) |
86993003 | Congenital anomaly of rectum (disorder) |
87047005 | Congenital cyst of esophagus (disorder) |
87074006 | Salla disease (disorder) |
87093008 | Congenital urethrorectal fistula (disorder) |
87119009 | Congenital cystic lung (disorder) |
8712002 | Congenital subaortic stenosis due to fibromuscular shelf (disorder) |
87142002 | Congenital absence of appendix (disorder) |
87181002 | Hyperplasia of islet alpha cells with glucagon excess (disorder) |
87290003 | Congenital anomaly of head (disorder) |
87294007 | Supernumerary vertebra (disorder) |
87310001 | Monorchism (disorder) |
87380008 | Congenital absence of vagina (disorder) |
87541004 | Ectopic gallbladder (disorder) |
8757006 | Hecht syndrome (disorder) |
8793008 | Rokitansky sequence (disorder) |
87979003 | Cleft palate (disorder) |
8800006 | Female pseudohermaphroditism (disorder) |
88035001 | Congenital megalogastria (disorder) |
88102009 | Nodular renal blastema (disorder) |
88103004 | Congenital onychauxis (disorder) |
88386004 | Congenital anomaly of diaphragm (disorder) |
88425004 | Congenital anomaly of nervous system (disorder) |
88445007 | Anomalous muscle bands of right ventricle (disorder) |
88469006 | Zellweger syndrome (disorder) |
88477005 | Lateral developmental cyst of jaw (disorder) |
8851000 | Nagele's pelvis (disorder) |
88656003 | Congenital absence of spermatic cord (disorder) |
88659005 | Cheilognathoprosoposchisis (disorder) |
88825008 | Congenital anomaly of cervix (disorder) |
8915006 | Congenital hypoplasia of breast (disorder) |
89166001 | Congenital anomaly of liver (disorder) |
89199004 | Congenital web of esophagus (disorder) |
89243009 | Polymelia (disorder) |
89318001 | Congenital prolapsed uterus (disorder) |
89369001 | Anencephalus (disorder) |
89378007 | Congenital displacement of stomach (disorder) |
89392001 | Prader-Willi syndrome (disorder) |
89409002 | Gastrothoracopagus dipygus (disorder) |
89434002 | Complete aphalangia of lower limb (disorder) |
89444000 | Oromandibular-limb hypogenesis spectrum (disorder) |
89454001 | Shwachman syndrome (disorder) |
89497006 | Persistent human tail (disorder) |
8962004 | Katadidymus (disorder) |
89647000 | Pyknodysostosis (disorder) |
89689008 | Congenital genu valgum (disorder) |
8986002 | Transposition of colon (disorder) |
89886004 | Congenital anomaly of skeletal muscle (disorder) |
89954008 | Ectopic pancreatic tissue in stomach (disorder) |
9031009 | Porokeratosis of Mibelli, linear unilateral type (disorder) |
90313000 | Autositic twin of asymmetrical conjoined twins (disorder) |
90383006 | Congenital absence of aorta (disorder) |
90496008 | Generalized epidermolysis bullosa simplex (disorder) |
90575004 | Persistent lanugo (disorder) |
90669003 | Congenital diverticulum of stomach (disorder) |
90693008 | Congenital asymmetry of jaw (disorder) |
90996003 | Cordate pelvis (disorder) |
91064002 | Warburg syndrome (disorder) |
91065001 | Cephalodymus (disorder) |
91158006 | Congenital anomaly of eyelid (disorder) |
91210006 | Congenital anourethral fistula (disorder) |
91285009 | Ectopic adrenal cortex (disorder) |
91304009 | Capillary fragility abnormality (disorder) |
91375006 | Congenital atresia of rectum (disorder) |
91443007 | Accessory bronchus (disorder) |
9147009 | Osteopoikilosis (disorder) |
91605000 | Congenital absence of artery (disorder) |
91634006 | Fused commissures of mitral valve (disorder) |
91841003 | Abnormal communication between pericardial sac and peritoneal cavity (disorder) |
91842005 | Abnormal lung lobation (disorder) |
91844006 | Supernumerary gallbladder (disorder) |
91845007 | Accessory gonad (disorder) |
91846008 | Supernumerary metacarpal bone (disorder) |
91847004 | Accessory sternebral ossification site (disorder) |
91848009 | Acephaly (disorder) |
91849001 | Acephalostomia (disorder) |
91868003 | Congenital absence of stomach (disorder) |
91869006 | Congenital absence of alisphenoid bone (disorder) |
91870007 | Congenital absence of basioccipital bone (disorder) |
91871006 | Congenital absence of basisphenoid bone (disorder) |
91872004 | Congenital absence of calcaneus (disorder) |
91873009 | Congenital absence of carpal bone (disorder) |
91877005 | Congenital absence of centrum of cervical vertebra (disorder) |
91878000 | Congenital absence of centrum of sacral vertebra (disorder) |
91879008 | Congenital absence of arch of cervical vertebra (disorder) |
91880006 | Congenital absence of cervical vertebra (disorder) |
91882003 | Congenital absence of epididymis (disorder) |
91883008 | Congenital absence of exoccipital bone (disorder) |
91885001 | Congenital absence of frontal bone (disorder) |
91887009 | Congenital absence of hyoid bone (disorder) |
91888004 | Congenital absence of ilium (disorder) |
91889007 | Congenital absence of interparietal bone (disorder) |
91890003 | Congenital absence of intestinal tract (disorder) |
91891004 | Congenital absence of ischium (disorder) |
91892006 | Congenital absence of lacrimal bone (disorder) |
91893001 | Congenital absence of arch of lumbar vertebra (disorder) |
91894007 | Congenital absence of centrum of lumbar vertebra (disorder) |
91895008 | Congenital absence of lumbar vertebra (disorder) |
91896009 | Congenital absence of mandible (disorder) |
91897000 | Congenital absence of maxilla (disorder) |
91898005 | Congenital absence of metacarpal bone (disorder) |
91899002 | Congenital absence of metatarsal bone (disorder) |
91900007 | Congenital absence of nasal bone (disorder) |
91901006 | Congenital absence of palatine bone (disorder) |
91902004 | Congenital absence of parietal bone (disorder) |
91903009 | Congenital absence of premaxilla (disorder) |
91904003 | Congenital absence of presphenoid bone (disorder) |
91905002 | Congenital absence of pubis (disorder) |
91906001 | Congenital absence of arch of sacral vertebra (disorder) |
91907005 | Congenital absence of sacral vertebra (disorder) |
91908000 | Congenital absence of scapula (disorder) |
91909008 | Congenital absence of squamosal bone (disorder) |
91910003 | Congenital absence of sternebra (disorder) |
91911004 | Congenital absence of supraoccipital bone (disorder) |
91913001 | Congenital absence of talus (disorder) |
91914007 | Congenital absence of tarsal bone (disorder) |
91915008 | Congenital absence of arch of thoracic vertebra (disorder) |
91916009 | Congenital absence of centrum of thoracic vertebra (disorder) |
91917000 | Congenital absence of thoracic vertebra (disorder) |
91918005 | Congenital absence of thymus (disorder) |
91919002 | Congenital absence of tympanic anulus (disorder) |
91920008 | Congenital absence of vomer (disorder) |
91921007 | Congenital absence of zygomatic bone (disorder) |
91922000 | Congenital absence of jaw (disorder) |
91946007 | Congenital absence of mouth (disorder) |
92082002 | Benign neoplasm of ectopic male breast tissue (disorder) |
92489003 | Cleft cartilaginous centrum of cervical vertebra (disorder) |
92490007 | Cleft cartilaginous centrum of lumbar vertebra (disorder) |
92491006 | Cleft cartilaginous centrum of sacral vertebra (disorder) |
92492004 | Cleft cartilaginous centrum of thoracic vertebra (disorder) |
92494003 | Bipartite ossification of centrum of cervical vertebra (disorder) |
92495002 | Bipartite ossification of interparietal bone (disorder) |
92496001 | Bipartite ossification of centrum of lumbar vertebra (disorder) |
92497005 | Bipartite ossification of centrum of sacral vertebra (disorder) |
92498000 | Bipartite ossification of sternebra (disorder) |
92499008 | Bipartite ossification of supraoccipital bone (disorder) |
92500004 | Bipartite ossification of centrum of thoracic vertebra (disorder) |
92501000 | Congenital cleft of thymus (disorder) |
92503002 | Neurofibromatosis type 2 (disorder) |
9252005 | Congenital bowing of tibia and/or fibula (disorder) |
92806000 | Cervical hemivertebra (disorder) |
92822004 | Cleft mandible (disorder) |
92824003 | Neurofibromatosis type 1 (disorder) |
92830003 | Combined valvular-subvalvular pulmonic stenosis (disorder) |
92833001 | Congenital abnormal fusion of adrenal glands (disorder) |
92834007 | Congenital abnormal fusion of alisphenoid bone (disorder) |
92836009 | Congenital abnormal fusion of arch of cervical vertebra (disorder) |
92837000 | Congenital abnormal fusion of arch of lumbar vertebra (disorder) |
92838005 | Congenital abnormal fusion of arch of sacral vertebra (disorder) |
92839002 | Congenital abnormal fusion of arch of thoracic vertebra (disorder) |
92840000 | Congenital abnormal fusion of basioccipital bone (disorder) |
92841001 | Congenital abnormal fusion of basisphenoid bone (disorder) |
92842008 | Congenital abnormal fusion of calcaneus (disorder) |
92843003 | Congenital abnormal fusion of carpal bone (disorder) |
92844009 | Congenital abnormal fusion of centrum cartilage of cervical vertebra (disorder) |
92845005 | Congenital abnormal fusion of centrum cartilage of lumbar vertebra (disorder) |
92846006 | Congenital abnormal fusion of centrum cartilage of sacral vertebra (disorder) |
92847002 | Congenital abnormal fusion of centrum cartilage of thoracic vertebra (disorder) |
92849004 | Congenital abnormal fusion of centrum of cervical vertebra (disorder) |
92850004 | Congenital abnormal fusion of centrum of lumbar vertebra (disorder) |
92851000 | Congenital abnormal fusion of centrum of sacral vertebra (disorder) |
92852007 | Congenital abnormal fusion of centrum of thoracic vertebra (disorder) |
92853002 | Congenital abnormal fusion of exoccipital bone (disorder) |
92854008 | Congenital abnormal fusion of femur (disorder) |
92855009 | Congenital abnormal fusion of fibula (disorder) |
92857001 | Congenital abnormal fusion of frontal bone (disorder) |
92859003 | Congenital abnormal fusion of humerus (disorder) |
92860008 | Congenital abnormal fusion of ilium (disorder) |
92861007 | Congenital abnormal fusion of interparietal bone (disorder) |
92862000 | Congenital abnormal fusion of ischium (disorder) |
92863005 | Congenital abnormal fusion of lacrimal bone (disorder) |
92864004 | Congenital abnormal fusion of liver lobes (disorder) |
92865003 | Congenital abnormal fusion of mandible (disorder) |
92866002 | Congenital abnormal fusion of maxilla (disorder) |
92867006 | Congenital abnormal fusion of metacarpal bone (disorder) |
92868001 | Congenital abnormal fusion of metatarsal bone (disorder) |
92869009 | Congenital abnormal fusion of nasal bone (disorder) |
92870005 | Congenital abnormal fusion of palatine bone (disorder) |
92871009 | Congenital abnormal fusion of parietal bone (disorder) |
92872002 | Congenital abnormal fusion of premaxilla (disorder) |
92873007 | Congenital abnormal fusion of presphenoid bone (disorder) |
92874001 | Congenital abnormal fusion of radius (disorder) |
92875000 | Congenital abnormal fusion of rib cartilage (disorder) |
92876004 | Congenital abnormal fusion of squamosal bone (disorder) |
92877008 | Congenital abnormal fusion of supraoccipital bone (disorder) |
92878003 | Congenital abnormal fusion of talus (disorder) |
92879006 | Congenital abnormal fusion of tarsal bone (disorder) |
92880009 | Congenital abnormal fusion of tibia (disorder) |
92881008 | Congenital abnormal fusion of tympanic anulus (disorder) |
92882001 | Congenital abnormal fusion of ulna (disorder) |
92883006 | Congenital abnormal fusion of vomer (disorder) |
92884000 | Congenital abnormal fusion of zygomatic bone (disorder) |
92885004 | Congenital abnormal long growth of bile duct (disorder) |
92886003 | Congenital abnormal shape of adrenal gland (disorder) |
92887007 | Congenital abnormal shape of alisphenoid bone (disorder) |
92888002 | Congenital abnormal shape of aortic valve (disorder) |
92891002 | Congenital abnormal shape of arch of lumbar vertebra (disorder) |
92892009 | Congenital abnormal shape of arch of sacral vertebra (disorder) |
92893004 | Congenital abnormal shape of arch of thoracic vertebra (disorder) |
92894005 | Congenital abnormal shape of auditory ossicles (disorder) |
92895006 | Congenital abnormal shape of basioccipital bone (disorder) |
92896007 | Congenital abnormal shape of basisphenoid bone (disorder) |
92897003 | Congenital abnormal shape of calcaneus (disorder) |
92898008 | Congenital abnormal shape of carpal bone (disorder) |
92900005 | Congenital abnormal shape of centrum of cervical vertebra (disorder) |
92901009 | Congenital abnormal shape of centrum of lumbar vertebra (disorder) |
92902002 | Congenital abnormal shape of centrum of sacral vertebra (disorder) |
92903007 | Congenital abnormal shape of centrum of thoracic vertebra (disorder) |
92904001 | Congenital abnormal shape of cerebellum (disorder) |
92905000 | Congenital abnormal shape of cerebrum (disorder) |
92906004 | Congenital abnormal shape of clavicle (disorder) |
92907008 | Congenital abnormal shape of digit (disorder) |
92908003 | Congenital abnormal shape of exoccipital bone (disorder) |
92909006 | Congenital abnormal shape of femur (disorder) |
92910001 | Congenital abnormal shape of fibula (disorder) |
92912009 | Congenital abnormal shape of frontal bone (disorder) |
92913004 | Congenital abnormal shape of gallbladder (disorder) |
92915006 | Congenital abnormal shape of humerus (disorder) |
92916007 | Congenital abnormal shape of hyoid bone (disorder) |
92917003 | Congenital abnormal shape of ilium (disorder) |
92918008 | Congenital abnormal shape of inner ear (disorder) |
92919000 | Congenital abnormal shape of interparietal bone (disorder) |
92920006 | Congenital abnormal shape of ischium (disorder) |
92921005 | Congenital abnormal shape of kidney (disorder) |
92922003 | Congenital abnormal shape of lacrimal bone (disorder) |
92923008 | Congenital abnormal shape of mitral valve (disorder) |
92924002 | Congenital abnormal shape of liver (disorder) |
92925001 | Congenital abnormal shape of lung (disorder) |
92926000 | Congenital abnormal shape of mandible (disorder) |
92927009 | Congenital abnormal shape of maxilla (disorder) |
92928004 | Congenital abnormal shape of metacarpal bone (disorder) |
92929007 | Congenital abnormal shape of metatarsal bone (disorder) |
92930002 | Congenital abnormal shape of nasal bone (disorder) |
92932005 | Congenital abnormal shape of ovary (disorder) |
92933000 | Congenital abnormal shape of fallopian tube (disorder) |
92934006 | Congenital abnormal shape of palate rugae (disorder) |
92935007 | Congenital abnormal shape of palatine bone (disorder) |
92936008 | Congenital abnormal shape of parietal bone (disorder) |
92937004 | Congenital abnormal shape of pinna (disorder) |
92938009 | Congenital abnormal shape of premaxilla (disorder) |
92939001 | Congenital abnormal shape of presphenoid bone (disorder) |
92940004 | Congenital abnormal shape of pubis (disorder) |
92941000 | Congenital abnormal shape of pulmonary valve (disorder) |
92942007 | Congenital abnormal shape of radius (disorder) |
92943002 | Congenital abnormal shape of rib (disorder) |
92944008 | Congenital abnormal shape of tricuspid valve (disorder) |
92945009 | Congenital abnormal shape of scapula (disorder) |
92946005 | Congenital abnormal shape of spleen (disorder) |
92947001 | Congenital abnormal shape of squamosal bone (disorder) |
92948006 | Congenital abnormal shape of sternebra (disorder) |
92949003 | Congenital abnormal shape of supraoccipital bone (disorder) |
92950003 | Congenital abnormal shape of talus (disorder) |
92951004 | Congenital abnormal shape of tarsal bone (disorder) |
92952006 | Congenital abnormal shape of testis (disorder) |
92953001 | Congenital abnormal shape of thymus (disorder) |
92954007 | Congenital abnormal shape of tibia (disorder) |
92955008 | Congenital abnormal shape of tympanic anulus (disorder) |
92956009 | Congenital abnormal shape of ulna (disorder) |
92957000 | Congenital abnormal shape of uterus (disorder) |
92958005 | Congenital abnormal shape of vomer (disorder) |
92959002 | Congenital abnormal shape of zygomatic bone (disorder) |
92960007 | Congenital absence of aortic valve (disorder) |
92961006 | Congenital absence of azygos vein (disorder) |
92962004 | Congenital absence of carotid artery (disorder) |
92963009 | Congenital absence of chordae tendineae (disorder) |
92965002 | Congenital absence of ductus arteriosus (disorder) |
92966001 | Congenital absence of eye bulge (disorder) |
92967005 | Congenital absence of genital tubercle (disorder) |
92968000 | Congenital absence of gonads (disorder) |
92969008 | Congenital absence of mitral valve (disorder) |
92970009 | Congenital absence of nasal turbinate (disorder) |
92971008 | Congenital absence of nasal septum (disorder) |
92972001 | Monophthalmos (disorder) |
92973006 | Congenital absence of oviduct (disorder) |
92974000 | Congenital absence of papillary muscle (disorder) |
92975004 | Congenital absence of renal papilla (disorder) |
92976003 | Congenital absence of tricuspid valve (disorder) |
92977007 | Congenital absence of subclavian artery (disorder) |
92978002 | Congenital absence of thyroid gland (disorder) |
92980008 | Congenital fenestration of alisphenoid bone (disorder) |
92981007 | Congenital bent clavicle (disorder) |
92982000 | Congenital bent humerus (disorder) |
92983005 | Congenital bent hyoid bone (disorder) |
92984004 | Congenital bent ilium (disorder) |
92985003 | Congenital bent ischium (disorder) |
92986002 | Congenital bent pubis (disorder) |
92987006 | Congenital bent radius (disorder) |
92988001 | Congenital bent rib (disorder) |
92989009 | Congenital bent scapula (disorder) |
92991001 | Congenital bent ulna (disorder) |
92992008 | Congenital anomaly of alisphenoid bone (disorder) |
92994009 | Congenital anomaly of azygos vein (disorder) |
92995005 | Congenital anomaly of basioccipital bone (disorder) |
92996006 | Congenital anomaly of basisphenoid bone (disorder) |
92997002 | Congenital anomaly of carotid artery (disorder) |
92998007 | Congenital anomaly of caudal vertebra (disorder) |
92999004 | Congenital anomaly of cervical vertebra (disorder) |
93001004 | Congenital anomaly of epididymis (disorder) |
93002006 | Congenital anomaly of exoccipital bone (disorder) |
93003001 | Congenital anomaly of fetal head bones (disorder) |
93004007 | Congenital anomaly of frontal bone (disorder) |
93005008 | Congenital anomaly of hyoid bone (disorder) |
93006009 | Congenital anomaly of ilium (disorder) |
93007000 | Congenital anomaly of interparietal bone (disorder) |
93008005 | Congenital anomaly of ischium (disorder) |
93009002 | Congenital anomaly of lacrimal bone (disorder) |
93010007 | Congenital anomaly of lumbar vertebra (disorder) |
93011006 | Congenital anomaly of nasal bone (disorder) |
93012004 | Congenital anomaly of nasal turbinate (disorder) |
93014003 | Congenital anomaly of palatine bone (disorder) |
93015002 | Congenital anomaly of parietal bone (disorder) |
93017005 | Congenital anomaly of pelvic bones (disorder) |
93018000 | Congenital anomaly of pericardium (disorder) |
93019008 | Congenital anomaly of premaxilla (disorder) |
93020002 | Congenital anomaly of presphenoid bone (disorder) |
93021003 | Congenital anomaly of pubis (disorder) |
93022005 | Congenital anomaly of rib cartilage (disorder) |
93023000 | Congenital anomaly of sacral vertebra (disorder) |
93024006 | Congenital anomaly of squamosal bone (disorder) |
93025007 | Congenital anomaly of sternebra (disorder) |
93026008 | Congenital anomaly of supraoccipital bone (disorder) |
93027004 | Congenital anomaly of thoracic vertebra (disorder) |
93028009 | Congenital anomaly of vomer (disorder) |
93029001 | Congenital anomaly of zygomatic bone (disorder) |
93030006 | Congenital absence of spleen (disorder) |
93031005 | Congenital atresia of inferior vena cava (disorder) |
93032003 | Congenital atresia of intestinal tract (disorder) |
93033008 | Congenital atresia of superior vena cava (disorder) |
93034002 | Congenital atresia of uterus (disorder) |
93035001 | Congenital fenestration of basioccipital bone (disorder) |
93036000 | Congenital fenestration of basisphenoid bone (disorder) |
93037009 | Congenital branched rib (disorder) |
93038004 | Congenital branched rib cartilage (disorder) |
93039007 | Congenital bilobed gallbladder (disorder) |
93044000 | Congenital convoluted ureter (disorder) |
93046003 | Congenital cyst of bladder (disorder) |
93049005 | Congenital cyst of spleen (disorder) |
93050005 | Congenital dilatation of aortic arch (disorder) |
93051009 | Congenital dilatation of atrium (disorder) |
93052002 | Congenital dilatation of bladder (disorder) |
93053007 | Congenital dilatation of cardiac ventricle (disorder) |
93054001 | Congenital dilatation of carotid artery (disorder) |
93055000 | Congenital dilatation of ductus arteriosus (disorder) |
93056004 | Congenital dilatation of inferior vena cava (disorder) |
93057008 | Congenital dilatation of innominate artery (disorder) |
93058003 | Congenital dilatation of intestinal tract (disorder) |
93059006 | Congenital dilatation of pulmonary artery (disorder) |
93060001 | Congenital dilatation of stomach (disorder) |
93061002 | Congenital dilatation of subclavian artery (disorder) |
93062009 | Congenital dilatation of superior vena cava (disorder) |
93063004 | Congenital diverticulum of intestinal tract (disorder) |
93064005 | Congenital duplication of aorta (disorder) |
93066007 | Congenital downward displacement of stomach (disorder) |
93067003 | Congenital elongation of innominate artery (disorder) |
93068008 | Congenital hypertrophy of adrenal gland (disorder) |
93069000 | Congenital hypertrophy of aortic valve (disorder) |
93070004 | Congenital enlargement of fontanel (disorder) |
93071000 | Congenital hypertrophy of lung (disorder) |
93072007 | Congenital hypertrophy of nasal cavity (disorder) |
93073002 | Congenital hypertrophy of ovary (disorder) |
93074008 | Congenital hypertrophy of fallopian tube (disorder) |
93075009 | Congenital hypertrophy of pulmonary valve (disorder) |
93076005 | Congenital hypertrophy of tricuspid valve (disorder) |
93077001 | Congenital hypertrophy of testis (disorder) |
93078006 | Congenital hypertrophy of cardiac ventricle (disorder) |
93080000 | Congenital fenestration of exoccipital bone (disorder) |
93082008 | Congenital fenestration of frontal bone (disorder) |
93083003 | Congenital fenestration of interparietal bone (disorder) |
93084009 | Congenital fenestration of nasal bone (disorder) |
93085005 | Congenital fenestration of parietal bone (disorder) |
93086006 | Congenital fenestration of premaxilla (disorder) |
93087002 | Congenital fenestration of presphenoid bone (disorder) |
93088007 | Congenital fenestration of squamosal bone (disorder) |
93089004 | Congenital fenestration of supraoccipital bone (disorder) |
93091007 | Congenital fistula of intestinal tract (disorder) |
93093005 | Congenital focal enlargement of rib (disorder) |
93095003 | Congenital hyperextension of limb (disorder) |
93096002 | Lack of ossification of fibula (disorder) |
93098001 | Lack of ossification of frontal bone (disorder) |
93100001 | Lack of ossification of humerus (disorder) |
93101002 | Lack of ossification of hyoid bone (disorder) |
93102009 | Lack of ossification of ilium (disorder) |
93103004 | Lack of ossification of interparietal bone (disorder) |
93105006 | Lack of ossification of lacrimal bone (disorder) |
93106007 | Lack of ossification of mandible (disorder) |
93107003 | Lack of ossification of maxilla (disorder) |
93108008 | Lack of ossification of metacarpal bone (disorder) |
93109000 | Lack of ossification of metatarsal bone (disorder) |
93110005 | Lack of ossification of nasal bone (disorder) |
9311003 | Hermansky-Pudlak syndrome (disorder) |
93111009 | Lack of ossification of palatine bone (disorder) |
93112002 | Lack of ossification of parietal bone (disorder) |
93113007 | Lack of ossification of premaxilla (disorder) |
93114001 | Lack of ossification of presphenoid bone (disorder) |
93116004 | Lack of ossification of radius (disorder) |
93117008 | Lack of ossification of rib (disorder) |
93118003 | Lack of ossification of scapula (disorder) |
93119006 | Lack of ossification of squamosal bone (disorder) |
93120000 | Lack of ossification of sternebra (disorder) |
93121001 | Lack of ossification of supraoccipital bone (disorder) |
93122008 | Lack of ossification of talus (disorder) |
93123003 | Lack of ossification of tarsal bone (disorder) |
93124009 | Lack of ossification of tibia (disorder) |
93125005 | Lack of ossification of tympanic anulus (disorder) |
93126006 | Lack of ossification of ulna (disorder) |
93127002 | Lack of ossification of vomer (disorder) |
93128007 | Lack of ossification of zygomatic bone (disorder) |
93131008 | Leptocephaly (disorder) |
93132001 | Lethal Kniest-like syndrome (disorder) |
93165009 | Localized macrodontia (disorder) |
93166005 | Localized microdontia (disorder) |
93167001 | Lumbar hemivertebra (disorder) |
93180003 | Macromelia (disorder) |
93181004 | Macrophthalmos (disorder) |
93232005 | Congenital hyperflexion of limb (disorder) |
93234006 | Congenital hypertrophy of mitral valve (disorder) |
93235007 | Congenital hypoplasia of adrenal gland (disorder) |
93236008 | Congenital hypoplasia of alisphenoid bone (disorder) |
93237004 | Congenital hypoplasia of aortic valve (disorder) |
93239001 | Congenital hypoplasia of arch of cervical vertebra (disorder) |
93240004 | Congenital hypoplasia of arch of lumbar vertebra (disorder) |
93241000 | Congenital hypoplasia of arch of sacral vertebra (disorder) |
93242007 | Congenital hypoplasia of arch of thoracic vertebra (disorder) |
93243002 | Congenital hypoplasia of basioccipital bone (disorder) |
93244008 | Congenital hypoplasia of basisphenoid bone (disorder) |
93245009 | Congenital hypoplasia of bladder (disorder) |
93246005 | Congenital hypoplasia of calcaneus (disorder) |
93247001 | Congenital hypoplasia of cardiac ventricle (disorder) |
93248006 | Congenital hypoplasia of carpal bone (disorder) |
93249003 | Congenital hypoplasia of cerebrum (disorder) |
93250003 | Congenital hypoplasia of clavicle (disorder) |
93252006 | Congenital hypoplasia of epididymis (disorder) |
93253001 | Congenital hypoplasia of exoccipital bone (disorder) |
93254007 | Congenital hypoplasia of eye bulge (disorder) |
93255008 | Congenital hypoplasia of femur (disorder) |
93256009 | Congenital hypoplasia of fibula (disorder) |
93258005 | Congenital hypoplasia of frontal bone (disorder) |
93259002 | Congenital hypoplasia of gallbladder (disorder) |
93260007 | Congenital hypoplasia of genital tubercle (disorder) |
93261006 | Congenital hypoplasia of gonad (disorder) |
93262004 | Congenital hypoplasia of heart (disorder) |
93264003 | Congenital hypoplasia of humerus (disorder) |
93265002 | Congenital hypoplasia of hyoid bone (disorder) |
93266001 | Congenital hypoplasia of ilium (disorder) |
93267005 | Congenital hypoplasia of interparietal bone (disorder) |
93268000 | Congenital hypoplasia of intestinal tract (disorder) |
93269008 | Congenital hypoplasia of ischium (disorder) |
93270009 | Congenital hypoplasia of lacrimal bone (disorder) |
93271008 | Congenital hypoplasia of mitral valve (disorder) |
93272001 | Congenital hypoplasia of metacarpal bone (disorder) |
93273006 | Congenital hypoplasia of metatarsal bone (disorder) |
93274000 | Congenital hypoplasia of nasal bone (disorder) |
93275004 | Congenital hypoplasia of nasal cavity (disorder) |
93276003 | Congenital hypoplasia of nasal turbinate (disorder) |
93277007 | Congenital hypoplasia of nasal septum (disorder) |
93278002 | Congenital hypoplasia of nose (disorder) |
93279005 | Congenital hypoplasia of ovary (disorder) |
93280008 | Congenital hypoplasia of fallopian tube (disorder) |
93281007 | Congenital hypoplasia of palatine bone (disorder) |
93282000 | Congenital hypoplasia of parietal bone (disorder) |
93284004 | Congenital hypoplasia of premaxilla (disorder) |
93285003 | Congenital hypoplasia of presphenoid bone (disorder) |
93286002 | Congenital hypoplasia of pubis (disorder) |
93287006 | Congenital hypoplasia of pulmonary valve (disorder) |
93288001 | Congenital hypoplasia of radius (disorder) |
93290000 | Congenital hypoplasia of renal pelvis (disorder) |
93291001 | Congenital hypoplasia of rib (disorder) |
93292008 | Congenital hypoplasia of spleen (disorder) |
93293003 | Congenital hypoplasia of squamosal bone (disorder) |
93294009 | Congenital hypoplasia of supraoccipital bone (disorder) |
93295005 | Congenital hypoplasia of talus (disorder) |
93296006 | Congenital hypoplasia of tarsal bone (disorder) |
93297002 | Congenital hypoplasia of thymus (disorder) |
93298007 | Congenital hypoplasia of tibia (disorder) |
93299004 | Congenital hypoplasia of tympanic anulus (disorder) |
93300007 | Congenital hypoplasia of ulna (disorder) |
93301006 | Congenital hypoplasia of vas deferens (disorder) |
93302004 | Congenital hypoplasia of vomer (disorder) |
93303009 | Congenital hypoplasia of zygomatic bone (disorder) |
93304003 | Congenital malposition of adrenal gland (disorder) |
93305002 | Congenital malposition of aorta (disorder) |
93307005 | Congenital malposition of arch of cervical vertebra (disorder) |
93308000 | Congenital malposition of arch of lumbar vertebra (disorder) |
93309008 | Congenital malposition of arch of sacral vertebra (disorder) |
93310003 | Congenital malposition of arch of thoracic vertebra (disorder) |
93311004 | Congenital malposition of calcaneus (disorder) |
93312006 | Congenital malposition of carotid artery (disorder) |
93313001 | Congenital malposition of carpal bone (disorder) |
93315008 | Congenital malposition of cervical vertebra (disorder) |
93317000 | Congenital malposition of digit (disorder) |
93318005 | Congenital malposition of ductus arteriosus (disorder) |
93319002 | Congenital malposition of epididymis (disorder) |
93320008 | Congenital malposition of eye (disorder) |
93321007 | Congenital malposition of femur (disorder) |
93322000 | Congenital malposition of fibula (disorder) |
93324004 | Congenital malposition of gallbladder (disorder) |
93326002 | Congenital malposition of humerus (disorder) |
93327006 | Congenital malposition of ilium (disorder) |
93328001 | Congenital malposition of inferior vena cava (disorder) |
93329009 | Congenital malposition of innominate artery (disorder) |
93330004 | Congenital malposition of intestinal tract (disorder) |
93331000 | Congenital malposition of ischium (disorder) |
93332007 | Congenital malposition of liver (disorder) |
93333002 | Congenital malposition of lumbar vertebra (disorder) |
93334008 | Congenital malposition of lung (disorder) |
93335009 | Congenital malposition of metacarpal bone (disorder) |
93336005 | Congenital malposition of metatarsal bone (disorder) |
93337001 | Congenital malposition of nares (disorder) |
93338006 | Congenital malposition of nasal turbinate (disorder) |
93339003 | Congenital malposition of nasal septum (disorder) |
93340001 | Congenital malposition of nose (disorder) |
93341002 | Congenital malposition of ovary (disorder) |
93342009 | Congenital malposition of fallopian tube (disorder) |
93343004 | Congenital malposition of palate rugae (disorder) |
93345006 | Congenital malposition of pinna (disorder) |
93346007 | Congenital malposition of pubis (disorder) |
93347003 | Congenital malposition of pulmonary artery (disorder) |
93348008 | Congenital malposition of radius (disorder) |
93349000 | Congenital malposition of rib (disorder) |
93350000 | Congenital malposition of sacral vertebra (disorder) |
93351001 | Congenital malposition of spleen (disorder) |
93352008 | Congenital malposition of sternebra (disorder) |
93353003 | Congenital malposition of subclavian artery (disorder) |
93354009 | Congenital malposition of superior vena cava (disorder) |
93356006 | Congenital malposition of talus (disorder) |
93357002 | Congenital malposition of tarsal bone (disorder) |
93358007 | Congenital malposition of testis (disorder) |
93359004 | Congenital malposition of the thyroid gland (disorder) |
93360009 | Congenital malposition of thoracic vertebra (disorder) |
93361008 | Congenital malposition of thymus (disorder) |
93362001 | Congenital malposition of tibia (disorder) |
93363006 | Congenital malposition of trachea (disorder) |
93364000 | Congenital malposition of ulna (disorder) |
93365004 | Congenital malposition of vas deferens (disorder) |
93367007 | Congenital malrotation of limb (disorder) |
93369005 | Congenital microhepatia (disorder) |
93372003 | Congenital misalignment of arch of cervical vertebra (disorder) |
93373008 | Congenital misalignment of centrum of cervical vertebra (disorder) |
93374002 | Congenital misalignment of arch of lumbar vertebra (disorder) |
93375001 | Congenital misalignment of centrum of lumbar vertebra (disorder) |
93376000 | Congenital misalignment of palate rugae (disorder) |
93377009 | Congenital misalignment of pubis (disorder) |
93378004 | Congenital misalignment of rib (disorder) |
93379007 | Congenital misalignment of arch of sacral vertebra (disorder) |
93380005 | Congenital misalignment of centrum of sacral vertebra (disorder) |
93381009 | Congenital misalignment of sternebra (disorder) |
93382002 | Congenital misalignment of arch of thoracic vertebra (disorder) |
93383007 | Congenital misalignment of centrum of thoracic vertebra (disorder) |
93390002 | Congenital ocular coloboma (disorder) |
93391003 | Congenital protrusion of tongue (disorder) |
93392005 | Congenital short growth of innominate artery (disorder) |
93394006 | Congenital short trunk (disorder) |
93395007 | Congenital small anus (disorder) |
93397004 | Congenital thickening of clavicle (disorder) |
93398009 | Congenital thickening of femur (disorder) |
93399001 | Congenital thickening of fibula (disorder) |
93402000 | Congenital thickening of humerus (disorder) |
93403005 | Congenital thickening of ilium (disorder) |
93404004 | Congenital thickening of ischium (disorder) |
93405003 | Congenital thickening of pubis (disorder) |
93406002 | Congenital thickening of radius (disorder) |
93407006 | Congenital thickening of rib (disorder) |
93408001 | Congenital thickening of scapula (disorder) |
93409009 | Congenital thickening of talus (disorder) |
93410004 | Congenital thickening of tarsal bone (disorder) |
93411000 | Congenital thickening of tibia (disorder) |
93412007 | Congenital thickening of ulna (disorder) |
93413002 | Thoracoceloschisis (disorder) |
93414008 | Congenital thoracostenosis (disorder) |
93415009 | Congenital transposition of azygos vein (disorder) |
93421008 | Decreased anogenital distance (disorder) |
93429005 | Discontinuous rib (disorder) |
93430000 | Domed head (disorder) |
93437002 | Dumbbell ossification of centrum of cervical vertebra (disorder) |
93438007 | Dumbbell ossification of centrum of lumbar vertebra (disorder) |
93439004 | Dumbbell ossification of centrum of sacral vertebra (disorder) |
93440002 | Dumbbell ossification of centrum of thoracic vertebra (disorder) |
93441003 | Dumbbell-shaped cartilaginous centrum of cervical vertebra (disorder) |
93442005 | Dumbbell-shaped cartilaginous centrum of lumbar vertebra (disorder) |
93443000 | Dumbbell-shaped cartilaginous centrum of sacral vertebra (disorder) |
93444006 | Dumbbell-shaped cartilaginous centrum of thoracic vertebra (disorder) |
93452009 | Extracapsular adrenal tissue (disorder) |
93460005 | Full supernumerary rib (disorder) |
93463007 | Generalized macrodontia (disorder) |
93466004 | Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) |
93480006 | Hemicentric cervical centrum (disorder) |
93481005 | Hemicentric lumbar centrum (disorder) |
93482003 | Hemicentric sacral centrum (disorder) |
93483008 | Hemicentric thoracic centrum (disorder) |
93556005 | Hologastroschisis (disorder) |
93557001 | Holorachischisis (disorder) |
93559003 | Hypogonadism with anosmia (disorder) |
93562000 | Incomplete ossification of alisphenoid bone (disorder) |
93564004 | Incomplete ossification of arch of cervical vertebra (disorder) |
93565003 | Incomplete ossification of arch of lumbar vertebra (disorder) |
93566002 | Incomplete ossification of arch of sacral vertebra (disorder) |
93567006 | Incomplete ossification of arch of thoracic vertebra (disorder) |
93568001 | Incomplete ossification of basioccipital bone (disorder) |
93569009 | Incomplete ossification of basisphenoid bone (disorder) |
93570005 | Incomplete ossification of calcaneus (disorder) |
93571009 | Incomplete ossification of carpal bone (disorder) |
93573007 | Incomplete ossification of centrum of cervical vertebra (disorder) |
93574001 | Incomplete ossification of centrum of lumbar vertebra (disorder) |
93575000 | Incomplete ossification of centrum of sacral vertebra (disorder) |
93576004 | Incomplete ossification of centrum of thoracic vertebra (disorder) |
93577008 | Incomplete ossification of clavicle (disorder) |
93578003 | Incomplete ossification of exoccipital bone (disorder) |
93579006 | Incomplete ossification of femur (disorder) |
93580009 | Incomplete ossification of fibula (disorder) |
93582001 | Incomplete ossification of frontal bone (disorder) |
93584000 | Incomplete ossification of humerus (disorder) |
93585004 | Incomplete ossification of hyoid bone (disorder) |
93587007 | Incomplete ossification of interparietal bone (disorder) |
93589005 | Incomplete ossification of lacrimal bone (disorder) |
93590001 | Incomplete ossification of mandible (disorder) |
93591002 | Incomplete ossification of maxilla (disorder) |
93592009 | Incomplete ossification of metacarpal bone (disorder) |
93593004 | Incomplete ossification of metatarsal bone (disorder) |
93594005 | Incomplete ossification of nasal bone (disorder) |
93595006 | Incomplete ossification of palatine bone (disorder) |
93596007 | Incomplete ossification of parietal bone (disorder) |
93597003 | Incomplete ossification of premaxilla (disorder) |
93598008 | Incomplete ossification of presphenoid bone (disorder) |
93600002 | Incomplete ossification of radius (disorder) |
93601003 | Incomplete ossification of rib (disorder) |
93602005 | Incomplete ossification of scapula (disorder) |
93603000 | Incomplete ossification of squamosal bone (disorder) |
93604006 | Incomplete ossification of sternebra (disorder) |
93605007 | Incomplete ossification of supraoccipital bone (disorder) |
93606008 | Incomplete ossification of talus (disorder) |
93607004 | Incomplete ossification of tarsal bone (disorder) |
93608009 | Incomplete ossification of tibia (disorder) |
93609001 | Incomplete ossification of tympanic anulus (disorder) |
93610006 | Incomplete ossification of ulna (disorder) |
93611005 | Incomplete ossification of vomer (disorder) |
93612003 | Incomplete ossification of zygomatic bone (disorder) |
93613008 | Increased anogenital distance (disorder) |
93615001 | Intercostal rib (disorder) |
93617009 | Lack of ossification of alisphenoid bone (disorder) |
93619007 | Lack of ossification of arch of cervical vertebra (disorder) |
93620001 | Lack of ossification of arch of lumbar vertebra (disorder) |
93621002 | Lack of ossification of arch of sacral vertebra (disorder) |
93622009 | Lack of ossification of arch of thoracic vertebra (disorder) |
93623004 | Congenital lack of ossification of auditory ossicles (disorder) |
93624005 | Lack of ossification of basioccipital bone (disorder) |
93625006 | Lack of ossification of basisphenoid bone (disorder) |
93626007 | Lack of ossification of calcaneus (disorder) |
93627003 | Lack of ossification of carpal bone (disorder) |
93629000 | Lack of ossification of centrum of cervical vertebra (disorder) |
93630005 | Lack of ossification of centrum of lumbar vertebra (disorder) |
93631009 | Lack of ossification of centrum of sacral vertebra (disorder) |
93632002 | Lack of ossification of centrum of thoracic vertebra (disorder) |
93633007 | Lack of ossification of clavicle (disorder) |
93634001 | Lack of ossification of exoccipital bone (disorder) |
93635000 | Lack of ossification of femur (disorder) |
94150003 | Membranous ventricular septum defect (disorder) |
94181000119108 | Congenital duplication of renal collecting system without obstruction (disorder) |
943003 | Congenital retinal aneurysm (disorder) |
94684003 | Microblepharia (disorder) |
94685002 | Microdactyly (disorder) |
94702005 | Multiple congenital cardiac defects (disorder) |
94703000 | Multiple intracardiac shunts (disorder) |
94706008 | Muscular ventricular septum defect (disorder) |
95198001 | Pure gonadal dysgenesis 46,XX (disorder) |
95202004 | Coloboma of eyelid (disorder) |
95218005 | Pure gonadal dysgenesis 46,XY (disorder) |
95219002 | Pure gonadal dysgenesis (disorder) |
95233002 | Retrocaval ureter (disorder) |
95234008 | Retroesophageal aortic arch (disorder) |
95235009 | Retroesophageal carotid artery (disorder) |
95236005 | Retroesophageal pulmonary artery (disorder) |
95237001 | Retroesophageal subclavian artery (disorder) |
95241002 | Rhinocephaly (disorder) |
95243004 | Rolland-Debuqois syndrome (disorder) |
95245006 | Sacral hemivertebra (disorder) |
95265004 | Short supernumerary rib (disorder) |
95266003 | Single naris (disorder) |
95282002 | Supernumerary arch of cervical vertebra (disorder) |
95283007 | Supernumerary arch of lumbar vertebra (disorder) |
95284001 | Supernumerary arch of sacral vertebra (disorder) |
95285000 | Supernumerary arch of thoracic vertebra (disorder) |
95286004 | Supernumerary azygos vein (disorder) |
95287008 | Supernumerary calcaneus (disorder) |
95289006 | Supernumerary centrum of cervical vertebra (disorder) |
95290002 | Supernumerary centrum of lumbar vertebra (disorder) |
95291003 | Supernumerary centrum of sacral vertebra (disorder) |
95292005 | Supernumerary centrum of thoracic vertebra (disorder) |
95293000 | Supernumerary cervical vertebra (disorder) |
95295007 | Supernumerary fused sternebra (disorder) |
95297004 | Supernumerary liver lobe (disorder) |
95298009 | Supernumerary lumbar vertebra (disorder) |
95299001 | Supernumerary metatarsal bone (disorder) |
95300009 | Supernumerary sacral vertebra (disorder) |
95301008 | Supernumerary tarsal bone (disorder) |
95302001 | Supernumerary thoracic vertebra (disorder) |
95304000 | Thoracic hemivertebra (disorder) |
95305004 | Thoracoschisis (disorder) |
95308002 | True generalized microdontia (disorder) |
95339000 | Distichiasis (disorder) |
95463009 | Congenital anomaly of joint (disorder) |
95464003 | Congenital absence of cranial vault (disorder) |
95466001 | Congenital perforation of nasal septum (disorder) |
95467005 | Congenital tracheomalacia (disorder) |
95468000 | Congenital bronchomalacia (disorder) |
95469008 | Abnormal plantar creases (disorder) |
95470009 | Congenital anomaly of digestive tract (disorder) |
95471008 | Congenital arteriovenous malformation of gastrointestinal tract (disorder) |
95472001 | Multiple gastrointestinal atresias (disorder) |
95473006 | Congenital anomaly of jaw (disorder) |
95477007 | Congenital degeneration of nervous system (disorder) |
95478002 | Congenital sacral meningocele (disorder) |
95479005 | Congenital sclerocornea (disorder) |
95480008 | Anterior lenticonus (disorder) |
95481007 | Anterior lentiglobus (disorder) |
95482000 | Posterior lenticonus (disorder) |
95483005 | Posterior lentiglobus (disorder) |
95484004 | Congenital pigmentation of lens (disorder) |
95485003 | Congenital anterior capsular pigmentation (disorder) |
95486002 | Congenital blindness (disorder) |
95488001 | Congenital macular corneal dystrophy (disorder) |
95489009 | Congenital cyst of conjunctiva (disorder) |
95490000 | Congenital anomaly of choroid (disorder) |
95491001 | Congenital hypoplasia of choroid (disorder) |
95492008 | Congenital hypopigmentation of choroid (disorder) |
95494009 | Retinal dysplasia (disorder) |
95495005 | Multifocal retinal dysplasia (disorder) |
95496006 | Geographic retinal dysplasia (disorder) |
95497002 | Diffuse retinal dysplasia (disorder) |
95498007 | Congenital myelin deficiency of the optic disc (disorder) |
95499004 | Hypoplasia of the optic nerve (disorder) |
95500008 | Persistent pupillary membranes (disorder) |
95501007 | Retinal arteriovenous malformation (disorder) |
95502000 | Congenital anomaly of optic nerve (disorder) |
95503005 | Macropalpebral fissure (disorder) |
95504004 | Ectopic cilia of eyelid (disorder) |
95505003 | Congenitally small punctum lacrimale (disorder) |
95506002 | Congenital displacement of punctum lacrimale (disorder) |
95507006 | Congenital diverticulum of lacrimal canaliculus (disorder) |
95509009 | Congenital strabismus (disorder) |
95515009 | Low set ears (disorder) |
95652003 | Congenital flaccid paralysis (disorder) |
95714006 | Hypoplasia of iris (disorder) |
95828007 | Congenital deafness (disorder) |
9634000 | Congenital dislocation of radial head (disorder) |
9660004 | Congenital stenosis of trachea (disorder) |
9723006 | Hyperphosphatasemia with bone disease (disorder) |
9740002 | Macroencephaly (disorder) |
975000 | Anorectal agenesis (disorder) |
97761000119105 | Congenital arteriovenous malformation of the duodenum and jejunum (disorder) |
97961000119108 | Congenital dilatation of lobar intrahepatic bile duct with obstruction (disorder) |
9904008 | Congenital anomaly of cardiovascular system (disorder) |
9918001 | Mobile kidney (disorder) |
9989000 | Congenital anomaly of toe (disorder) |

# compose.include[].concept[].display
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder)

# compose.include[].concept[].display
Bilateral congenital dislocation of hip (disorder)

# compose.include[].concept[].display
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder)

# compose.include[].concept[].display
Congenital stenosis of cervical canal (disorder)

# compose.include[].concept[].display
Lipoma co-occurrent with spina bifida (disorder)

# compose.include[].concept[].display
Hyperplasia of islet alpha cells with gastrin excess (disorder)

# compose.include[].concept[].display
Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of uterine cervix (disorder)

# compose.include[].concept[].display
Congenital fistula between uterus and urinary tract (disorder)

# compose.include[].concept[].display
Congenital malposition of heart (disorder)

# compose.include[].concept[].display
Uranostaphyloschisis with cleft lip (disorder)

# compose.include[].concept[].display
Cleft of hard palate and cleft lip (disorder)

# compose.include[].concept[].display
Cleft palate and bilateral cleft lip (disorder)

# compose.include[].concept[].display
Cleft of soft palate and bilateral cleft lip (disorder)

# compose.include[].concept[].display
Cleft of soft palate and cleft lip (disorder)

# compose.include[].concept[].display
Congenital malformation of larynx and trachea (disorder)

# compose.include[].concept[].display
Congenital atresia of pulmonary artery (disorder)

# compose.include[].concept[].display
Accessory navicular bone of foot (disorder)

# compose.include[].concept[].display
Single muscular ventricular septum defect (disorder)

# compose.include[].concept[].display
Multiple muscular ventricular septum defect (disorder)

# compose.include[].concept[].display
Ebstein-like malformation of mitral valve (disorder)

# compose.include[].concept[].display
Anomalous cardiac muscle bands (disorder)

# compose.include[].concept[].display
Congenital anomaly of oral mucosa (disorder)

# compose.include[].concept[].display
Exaggerated cingulum of tooth (disorder)

# compose.include[].concept[].display
Congenital absence of one tooth (disorder)

# compose.include[].concept[].display
Anodontia of primary dentition (disorder)

# compose.include[].concept[].display
Anodontia of permanent dentition (disorder)

# compose.include[].concept[].display
Congenital hypodontia, multiple teeth, unrelated to systemic disease (disorder)

# compose.include[].concept[].display
Congenital hypodontia, multiple teeth, related to systemic disease (disorder)

# compose.include[].concept[].display
Supernumerary tooth identifiable by tooth number (disorder)

# compose.include[].concept[].display
Supernumerary tooth unidentifiable by tooth number (disorder)

# compose.include[].concept[].display
Multirooted tooth with divergent roots (disorder)

# compose.include[].concept[].display
Multirooted tooth with convergent roots (disorder)

# compose.include[].concept[].display
Lateral accessory root canals (disorder)

# compose.include[].concept[].display
Intrinsic enamel discoloration of erythroblastosis fetalis (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta, hypoplastic type with microdontia (disorder)

# compose.include[].concept[].display
Crowding of teeth due to supernumerary teeth (disorder)

# compose.include[].concept[].display
Congenital alveolar hyperplasia of mandible (disorder)

# compose.include[].concept[].display
Congenital alveolar hyperplasia of maxilla (disorder)

# compose.include[].concept[].display
Congenital alveolar hypoplasia of mandible (disorder)

# compose.include[].concept[].display
Congenital alveolar hypoplasia of maxilla (disorder)

# compose.include[].concept[].display
Precocious exfoliation related to ectopic eruption of proximate tooth (disorder)

# compose.include[].concept[].display
Bilateral cleft of primary palate (disorder)

# compose.include[].concept[].display
Aberrant insertion of labial frenulum (disorder)

# compose.include[].concept[].display
Ectopic oral gastrointestinal cyst (disorder)

# compose.include[].concept[].display
Aberrant insertion of frenum of tongue (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of tibia AND/OR fibula (disorder)

# compose.include[].concept[].display
Congenital cystic adenomatoid malformation of lung (disorder)

# compose.include[].concept[].display
Truncus arteriosus, Edwards' type IV (disorder)

# compose.include[].concept[].display
Congenital anomaly of pulmonary veins (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous return (disorder)

# compose.include[].concept[].display
Congenital anomaly of salivary gland (disorder)

# compose.include[].concept[].display
Congenital diverticulum of pharynx (disorder)

# compose.include[].concept[].display
Congenital dilatation of lobar intrahepatic bile duct (disorder)

# compose.include[].concept[].display
Congenital lateral curvature of penis (disorder)

# compose.include[].concept[].display
Congenital anomaly of ear with impairment of hearing (disorder)

# compose.include[].concept[].display
Cutis laxa, autosomal dominant (disorder)

# compose.include[].concept[].display
Congenital stricture of osseous meatus of middle ear (disorder)

# compose.include[].concept[].display
Merosin deficient congenital muscular dystrophy (disorder)

# compose.include[].concept[].display
Distal muscular dystrophy, Miyoshi type (disorder)

# compose.include[].concept[].display
Congenital choroid plexus cyst (disorder)

# compose.include[].concept[].display
Congenital anomaly of pharynx (disorder)

# compose.include[].concept[].display
Congenital superior sulcus anomaly of orbit (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula (disorder)

# compose.include[].concept[].display
Congenital stenosis of pulmonary veins (disorder)

# compose.include[].concept[].display
Congenital inversion of nipple (disorder)

# compose.include[].concept[].display
Congenital anomaly of the urinary tract proper (disorder)

# compose.include[].concept[].display
Congenital stenosis of larynx (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ascending aorta (disorder)

# compose.include[].concept[].display
Congenital trigger finger and trigger thumb (disorder)

# compose.include[].concept[].display
Congenital hammer toe of left foot (disorder)

# compose.include[].concept[].display
Congenital hammer toe of right foot (disorder)

# compose.include[].concept[].display
Congenital absence of sternum (disorder)

# compose.include[].concept[].display
Congenital articular rigidity with myopathy (disorder)

# compose.include[].concept[].display
Congenital eventration of left crus of diaphragm (disorder)

# compose.include[].concept[].display
Congenital anomaly of scapula (disorder)

# compose.include[].concept[].display
Congenital anomaly of humerus (disorder)

# compose.include[].concept[].display
Congenital anomaly of calcaneus (disorder)

# compose.include[].concept[].display
Congenital anomaly of tarsal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of metatarsal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of carpal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of lower respiratory system (disorder)

# compose.include[].concept[].display
Accessory structure of lower respiratory tract (disorder)

# compose.include[].concept[].display
Congenital atresia of cardiac valve (disorder)

# compose.include[].concept[].display
Congenital cleft of cardiac valve (disorder)

# compose.include[].concept[].display
Congenital anteversion of femur (disorder)

# compose.include[].concept[].display
Patent ductus arteriosus with left-to-right shunt (disorder)

# compose.include[].concept[].display
Patent ductus arteriosus with right-to-left shunt (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with senile-like appearance (disorder)

# compose.include[].concept[].display
Congenital anomaly of perineum (disorder)

# compose.include[].concept[].display
Congenital anomaly of intestinal tract (disorder)

# compose.include[].concept[].display
Knuckle pads, deafness AND leukonychia syndrome (disorder)

# compose.include[].concept[].display
Congenital absence of skeletal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of visual system (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of brain (disorder)

# compose.include[].concept[].display
Cyanotic congenital heart disease (disorder)

# compose.include[].concept[].display
Congenital positive ulnar variant of wrist (disorder)

# compose.include[].concept[].display
Congenital absence of portal vein (disorder)

# compose.include[].concept[].display
Congenital anomaly of central nervous system (disorder)

# compose.include[].concept[].display
Congenital anomaly of maxilla (disorder)

# compose.include[].concept[].display
Congenital anomaly of mandible (disorder)

# compose.include[].concept[].display
Congenital anomaly of nasal sinuses (disorder)

# compose.include[].concept[].display
Congenital anomaly of ocular adnexa (disorder)

# compose.include[].concept[].display
Congenital anomaly of digestive organ (disorder)

# compose.include[].concept[].display
Congenital anomaly of duodenum (disorder)

# compose.include[].concept[].display
Congenital anomaly of peritoneum (disorder)

# compose.include[].concept[].display
Congenital anomaly of gastrointestinal tract (disorder)

# compose.include[].concept[].display
Congenital anomaly of posterior segment of eye (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula to left atrium (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula to left ventricle (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula to right atrium (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula to right ventricle (disorder)

# compose.include[].concept[].display
Congenital pulmonary vein confluence (disorder)

# compose.include[].concept[].display
Congenital pulmonary venous atrium (disorder)

# compose.include[].concept[].display
Congenital systemic venous atrium (disorder)

# compose.include[].concept[].display
Congenital pulmonary artery conduit (disorder)

# compose.include[].concept[].display
Congenital absence of bile duct (disorder)

# compose.include[].concept[].display
Congenital stricture of ureteropelvic junction (disorder)

# compose.include[].concept[].display
Congenital coronary artery fistula to pulmonary artery (disorder)

# compose.include[].concept[].display
Nemaline myopathy, early onset type (disorder)

# compose.include[].concept[].display
Nemaline myopathy, late onset type (disorder)

# compose.include[].concept[].display
Congenital ichthyosis of skin (disorder)

# compose.include[].concept[].display
Femoral hypoplasia - unusual facies syndrome (disorder)

# compose.include[].concept[].display
Congenital corneal opacity interfering with vision (disorder)

# compose.include[].concept[].display
Anomalous muscle bands of left ventricle (disorder)

# compose.include[].concept[].display
Congenital anomaly of lacrimal system (disorder)

# compose.include[].concept[].display
Congenital lobulation of kidney (disorder)

# compose.include[].concept[].display
Congenital duplication of stomach (disorder)

# compose.include[].concept[].display
Congenital absence of lobe of liver (disorder)

# compose.include[].concept[].display
Congenital stricture of urethra (disorder)

# compose.include[].concept[].display
Congenital anomaly of aortic valve (disorder)

# compose.include[].concept[].display
Congenital anomaly of urethra (disorder)

# compose.include[].concept[].display
Preductal coarctation of aorta (disorder)

# compose.include[].concept[].display
Congenital transverse septate vagina (disorder)

# compose.include[].concept[].display
Congenital prolapse of bladder (disorder)

# compose.include[].concept[].display
Congenital stenosis of small intestine (disorder)

# compose.include[].concept[].display
Anomalous origin of right subclavian artery (disorder)

# compose.include[].concept[].display
Congenital anomaly of trachea (disorder)

# compose.include[].concept[].display
Vestigial remnants of canal of Cloquet (disorder)

# compose.include[].concept[].display
Congenital anomaly of large intestine (disorder)

# compose.include[].concept[].display
Myotubular myopathy with type I atrophy (disorder)

# compose.include[].concept[].display
Congenital insufficiency of pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital stricture of bile duct (disorder)

# compose.include[].concept[].display
Congenital transposition of stomach (disorder)

# compose.include[].concept[].display
Origin of innominate artery from left side of aortic arch (disorder)

# compose.include[].concept[].display
Central nervous system malformation in fetus affecting obstetrical care (disorder)

# compose.include[].concept[].display
Congenital dislocation of knee with genu recurvatum (disorder)

# compose.include[].concept[].display
Congenital duplication of uterus (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)

# compose.include[].concept[].display
Congenital absence of lobe of lung (disorder)

# compose.include[].concept[].display
Congenital anomaly of right sternocleidomastoid muscle (disorder)

# compose.include[].concept[].display
Epiblepharon of bilateral eyes (disorder)

# compose.include[].concept[].display
Congenital bilateral optic nerve pits (disorder)

# compose.include[].concept[].display
Congenital coloboma of iris of right eye (disorder)

# compose.include[].concept[].display
Congenital coloboma of bilateral irides (disorder)

# compose.include[].concept[].display
Congenital coloboma of iris of left eye (disorder)

# compose.include[].concept[].display
Tarsal coalition of right foot (disorder)

# compose.include[].concept[].display
Tarsal coalition of left foot (disorder)

# compose.include[].concept[].display
Polydactyly of toes of right foot (disorder)

# compose.include[].concept[].display
Polydactyly of toes of left foot (disorder)

# compose.include[].concept[].display
Polydactyly of fingers of right hand (disorder)

# compose.include[].concept[].display
Polydactyly of fingers of bilateral hands (disorder)

# compose.include[].concept[].display
Polydactyly of fingers of left hand (disorder)

# compose.include[].concept[].display
Accessory tarsal bone of right foot (disorder)

# compose.include[].concept[].display
Congenital dysplasia of left hip (disorder)

# compose.include[].concept[].display
Congenital dysplasia of right hip (disorder)

# compose.include[].concept[].display
Radioulnar synostosis of left arm (disorder)

# compose.include[].concept[].display
Radioulnar synostosis of right arm (disorder)

# compose.include[].concept[].display
Metatarsus primus varus of right foot (disorder)

# compose.include[].concept[].display
Metatarsus primus varus of left foot (disorder)

# compose.include[].concept[].display
Congenital bowing of right tibia and fibula (disorder)

# compose.include[].concept[].display
Congenital bowing of left tibia and fibula (disorder)

# compose.include[].concept[].display
Congenital coxa vara of the left hip (disorder)

# compose.include[].concept[].display
Congenital coxa vara of the right hip (disorder)

# compose.include[].concept[].display
Congenital deformity of right hip joint (disorder)

# compose.include[].concept[].display
Congenital deformity of left hip joint (disorder)

# compose.include[].concept[].display
Congenital talipes equinovarus of bilateral feet (disorder)

# compose.include[].concept[].display
Congenital talipes equinovarus of left foot (disorder)

# compose.include[].concept[].display
Talipes calcaneovarus of right foot (disorder)

# compose.include[].concept[].display
Talipes calcaneovarus of left foot (disorder)

# compose.include[].concept[].display
Congenital metatarsus adductus of bilateral feet (disorder)

# compose.include[].concept[].display
Talipes calcaneovalgus of right foot (disorder)

# compose.include[].concept[].display
Talipes calcaneovalgus of left foot (disorder)

# compose.include[].concept[].display
Congenital talipes equinovarus of right foot (disorder)

# compose.include[].concept[].display
Congenital deformity of right hand (disorder)

# compose.include[].concept[].display
Congenital deformity of left hand (disorder)

# compose.include[].concept[].display
Congenital deformity of left knee joint (disorder)

# compose.include[].concept[].display
Transverse deficiency of right upper limb (disorder)

# compose.include[].concept[].display
Transverse deficiency of left upper limb (disorder)

# compose.include[].concept[].display
Congenital absence of entire right hand (disorder)

# compose.include[].concept[].display
Congenital absence of left upper limb (disorder)

# compose.include[].concept[].display
Congenital absence of right upper limb (disorder)

# compose.include[].concept[].display
Congenital dislocation of head of left radius (disorder)

# compose.include[].concept[].display
Congenital dislocation of head of right radius (disorder)

# compose.include[].concept[].display
Congenital elevation of left scapula (disorder)

# compose.include[].concept[].display
Congenital elevation of right scapula (disorder)

# compose.include[].concept[].display
Congenital genu valgum of left knee (disorder)

# compose.include[].concept[].display
Congenital genu valgum of right knee (disorder)

# compose.include[].concept[].display
Congenital genu valgum of bilateral knees (disorder)

# compose.include[].concept[].display
Congenital dislocation of right patella (disorder)

# compose.include[].concept[].display
Congenital dislocation of left patella (disorder)

# compose.include[].concept[].display
Congenital dislocation of left knee (disorder)

# compose.include[].concept[].display
Congenital genu varum of bilateral knees (disorder)

# compose.include[].concept[].display
Congenital genu recurvatum of left knee (disorder)

# compose.include[].concept[].display
Congenital genu recurvatum of right knee (disorder)

# compose.include[].concept[].display
Congenital exotropia of right eye (disorder)

# compose.include[].concept[].display
Congenital exotropia of left eye (disorder)

# compose.include[].concept[].display
Macrodactyly of toe of right foot (disorder)

# compose.include[].concept[].display
Macrodactyly of toe of left foot (disorder)

# compose.include[].concept[].display
Congenital hallux valgus of bilateral great toes (disorder)

# compose.include[].concept[].display
Congenital clinodactyly of little finger of bilateral hands (disorder)

# compose.include[].concept[].display
Congenital clinodactyly of little finger of left hand (disorder)

# compose.include[].concept[].display
Congenital clinodactyly of little finger of right hand (disorder)

# compose.include[].concept[].display
Camptodactyly of bilateral hands (disorder)

# compose.include[].concept[].display
Congenital bilateral internal tibial torsion (finding)

# compose.include[].concept[].display
Congenital internal torsion of tibia of right lower limb (disorder)

# compose.include[].concept[].display
Congenital internal torsion of tibia of left lower limb (disorder)

# compose.include[].concept[].display
Congenital cleft thyroid cartilage (disorder)

# compose.include[].concept[].display
Congenital absence of vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of left ear (disorder)

# compose.include[].concept[].display
Congenital anomaly of right ear (disorder)

# compose.include[].concept[].display
Congenital atresia of right external ear (disorder)

# compose.include[].concept[].display
On examination - hands - arachnodactyly (disorder)

# compose.include[].concept[].display
Congenital absence of membranous labyrinth (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of humerus (disorder)

# compose.include[].concept[].display
Incomplete congenital absence of thigh AND leg (disorder)

# compose.include[].concept[].display
Complete congenital absence of teeth (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, type 4 (disorder)

# compose.include[].concept[].display
Congenital eventration of diaphragm (disorder)

# compose.include[].concept[].display
Ebstein's anomaly with atrial septal defect (disorder)

# compose.include[].concept[].display
Sacralization of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital subluxation of carpus (disorder)

# compose.include[].concept[].display
Congenital deformity of sacroiliac joint (disorder)

# compose.include[].concept[].display
Early urethral obstruction sequence (disorder)

# compose.include[].concept[].display
Congenital sequestration of lung (disorder)

# compose.include[].concept[].display
Congenital prolapse of urethra (disorder)

# compose.include[].concept[].display
Thymic aplasia or dysplasia with immunodeficiency (disorder)

# compose.include[].concept[].display
Congenital absence of urethra (disorder)

# compose.include[].concept[].display
Premature closure of foramen ovale (disorder)

# compose.include[].concept[].display
Distal muscular dystrophy with juvenile onset (disorder)

# compose.include[].concept[].display
Congenital deficiency of pigment of skin (disorder)

# compose.include[].concept[].display
Anterior imbrication of teeth (disorder)

# compose.include[].concept[].display
Posterior imbrication of teeth (disorder)

# compose.include[].concept[].display
Longitudinal absence of radius AND ulna (disorder)

# compose.include[].concept[].display
Porokeratosis of Mibelli, plaque type (disorder)

# compose.include[].concept[].display
Cervical spina bifida with hydrocephalus (disorder)

# compose.include[].concept[].display
Thoracic spina bifida with hydrocephalus (disorder)

# compose.include[].concept[].display
Lumbar spina bifida with hydrocephalus (disorder)

# compose.include[].concept[].display
Cervical spina bifida with hydrocephalus - open (disorder)

# compose.include[].concept[].display
Thoracic spina bifida with hydrocephalus - open (disorder)

# compose.include[].concept[].display
Lumbar spina bifida with hydrocephalus - open (disorder)

# compose.include[].concept[].display
Sacral spina bifida with hydrocephalus - open (disorder)

# compose.include[].concept[].display
Spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Cervical spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Thoracic spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Lumbar spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Sacral spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Spina bifida with hydrocephalus of late onset (disorder)

# compose.include[].concept[].display
Spina bifida with stenosis of aqueduct of Sylvius (disorder)

# compose.include[].concept[].display
Dandy-Walker syndrome with spina bifida (disorder)

# compose.include[].concept[].display
Cervical spina bifida without hydrocephalus - open (disorder)

# compose.include[].concept[].display
Thoracic spina bifida without hydrocephalus - open (disorder)

# compose.include[].concept[].display
Lumbar spina bifida without hydrocephalus - open (disorder)

# compose.include[].concept[].display
Sacral spina bifida without hydrocephalus - open (disorder)

# compose.include[].concept[].display
Spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Cervical spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Thoracic spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Lumbar spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Sacral spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Congenital malformation of corpus callosum (disorder)

# compose.include[].concept[].display
Hypoplasia of corpus callosum (disorder)

# compose.include[].concept[].display
Single congenital cerebral cyst (disorder)

# compose.include[].concept[].display
Multiple congenital cerebral cysts (disorder)

# compose.include[].concept[].display
Congenital adhesions of cerebral meninges (disorder)

# compose.include[].concept[].display
Cortical and zonular cataract (disorder)

# compose.include[].concept[].display
Corneal size and shape anomalies (disorder)

# compose.include[].concept[].display
Congenital corneal opacity with visual deficit (disorder)

# compose.include[].concept[].display
Congenital corneal opacity without visual deficit (disorder)

# compose.include[].concept[].display
Multiple anterior segment anomalies (disorder)

# compose.include[].concept[].display
Congenital fold and cyst of posterior segment of eye (disorder)

# compose.include[].concept[].display
Congenital stricture of retinal artery (disorder)

# compose.include[].concept[].display
Congenital anomalies of eyelid, lacrimal system and orbit (disorder)

# compose.include[].concept[].display
Agenesis of punctum lacrimale (disorder)

# compose.include[].concept[].display
Ear, face and neck congenital anomalies (disorder)

# compose.include[].concept[].display
Congenital abnormality of Eustachian tube (disorder)

# compose.include[].concept[].display
Branchial cleft external sinus (disorder)

# compose.include[].concept[].display
Branchial cleft internal sinus (disorder)

# compose.include[].concept[].display
Incomplete great vessel transposition (disorder)

# compose.include[].concept[].display
Ventricular septal defect between left ventricle and right atrium (disorder)

# compose.include[].concept[].display
Congenital atresia of the pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital fusion of pulmonic cusps (disorder)

# compose.include[].concept[].display
Congenital fusion of pulmonary valve segment (disorder)

# compose.include[].concept[].display
Supernumerary pulmonary valve cusps (disorder)

# compose.include[].concept[].display
Congenital tricuspid atresia and stenosis (disorder)

# compose.include[].concept[].display
Ebstein's anomaly of tricuspid valve (disorder)

# compose.include[].concept[].display
Parachute malformation of mitral valve (disorder)

# compose.include[].concept[].display
Supernumerary cusps of the mitral valve (disorder)

# compose.include[].concept[].display
Stenosis of infundibulum of right ventricle (disorder)

# compose.include[].concept[].display
Congenital stricture of coronary artery (disorder)

# compose.include[].concept[].display
Congenital anomaly of myocardium (disorder)

# compose.include[].concept[].display
Anomalous origin of the aortic arch (disorder)

# compose.include[].concept[].display
Persistent aortic arch convolutions (disorder)

# compose.include[].concept[].display
Atresia and stenosis of aorta (disorder)

# compose.include[].concept[].display
Atresia of pulmonary artery with septal defect (disorder)

# compose.include[].concept[].display
Subdiaphragmatic total anomalous pulmonary venous return (disorder)

# compose.include[].concept[].display
Supradiaphragmatic total anomalous pulmonary venous return (disorder)

# compose.include[].concept[].display
Anomalous portal vein termination (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of precerebral vessels (disorder)

# compose.include[].concept[].display
Congenital stricture of cerebral artery (disorder)

# compose.include[].concept[].display
Atresia of the anterior nares (disorder)

# compose.include[].concept[].display
Atresia of the posterior nares (disorder)

# compose.include[].concept[].display
Congenital perforation of the nasal sinus wall (disorder)

# compose.include[].concept[].display
Congenital glottic web of larynx (disorder)

# compose.include[].concept[].display
Congenital subglottic web of larynx (disorder)

# compose.include[].concept[].display
Agenesis of larynx, trachea and bronchus (disorder)

# compose.include[].concept[].display
Atresia of larynx and trachea (disorder)

# compose.include[].concept[].display
Congenital stenosis of larynx, trachea and bronchus (disorder)

# compose.include[].concept[].display
Congenital fissure of epiglottis (disorder)

# compose.include[].concept[].display
Congenital cleft of posterior cricoid cartilage (disorder)

# compose.include[].concept[].display
Congenital absence of lung fissures (disorder)

# compose.include[].concept[].display
Bilateral complete cleft palate with cleft lip (disorder)

# compose.include[].concept[].display
Bilateral incomplete cleft palate with cleft lip (disorder)

# compose.include[].concept[].display
Central complete cleft palate with cleft lip (disorder)

# compose.include[].concept[].display
Central incomplete cleft palate with cleft lip (disorder)

# compose.include[].concept[].display
Cleft hard palate with cleft lip, bilateral (disorder)

# compose.include[].concept[].display
Congenital salivary gland fistula (disorder)

# compose.include[].concept[].display
Congenital absence of esophagus with tracheoesophageal fistula (disorder)

# compose.include[].concept[].display
Esophageal atresia with tracheoesophageal fistula (disorder)

# compose.include[].concept[].display
Small intestine atresia and stenosis (disorder)

# compose.include[].concept[].display
Congenital absence of duodenum (disorder)

# compose.include[].concept[].display
Congenital absence of jejunum (disorder)

# compose.include[].concept[].display
Congenital absence of anus with fistula (disorder)

# compose.include[].concept[].display
Congenital absence of rectum with fistula (disorder)

# compose.include[].concept[].display
Congenital atresia of appendix (disorder)

# compose.include[].concept[].display
Atresia of rectum with fistula (disorder)

# compose.include[].concept[].display
Congenital stricture of anus with fistula (disorder)

# compose.include[].concept[].display
Congenital stricture of rectum with fistula (disorder)

# compose.include[].concept[].display
Long segment Hirschsprung's disease (disorder)

# compose.include[].concept[].display
Short segment Hirschsprung's disease (disorder)

# compose.include[].concept[].display
Malrotation of colon and cecum (disorder)

# compose.include[].concept[].display
Congenital absence of hepatic ducts (disorder)

# compose.include[].concept[].display
Congenital absence of liver and/or gallbladder (disorder)

# compose.include[].concept[].display
Liver and/or biliary duplication (disorder)

# compose.include[].concept[].display
Congenital dilation of bile duct (disorder)

# compose.include[].concept[].display
Congenital diverticulum of bile duct (disorder)

# compose.include[].concept[].display
Congenital malformation of genital organs (disorder)

# compose.include[].concept[].display
Fallopian tube and broad ligament anomalies (disorder)

# compose.include[].concept[].display
Congenital fistulae between uterus and digestive and urinary tracts (disorder)

# compose.include[].concept[].display
Cervical, vaginal and external female genital anomalies (disorder)

# compose.include[].concept[].display
Congenital aplasia of round ligament (disorder)

# compose.include[].concept[].display
Congenital aplasia of scrotum (disorder)

# compose.include[].concept[].display
Hydatid cyst of Morgagni - male (disorder)

# compose.include[].concept[].display
Hydatid cyst of Morgagni - female (disorder)

# compose.include[].concept[].display
Renal agenesis and dysgenesis (disorder)

# compose.include[].concept[].display
Renal pelvis and ureter obstructive defects (disorder)

# compose.include[].concept[].display
Congenital prolapse of bladder mucosa (disorder)

# compose.include[].concept[].display
Congenital deformity of spine (disorder)

# compose.include[].concept[].display
Congenital subluxation of hip, bilateral (disorder)

# compose.include[].concept[].display
Congenital dislocation of knee grade I (disorder)

# compose.include[].concept[].display
Congenital dislocation of knee grade II (disorder)

# compose.include[].concept[].display
Congenital dislocation of knee grade III (disorder)

# compose.include[].concept[].display
Congenital dislocation of patella (disorder)

# compose.include[].concept[].display
Congenital complex varus foot deformity (disorder)

# compose.include[].concept[].display
Congenital short Achilles tendon (disorder)

# compose.include[].concept[].display
Torsion of accessory fallopian tube (disorder)

# compose.include[].concept[].display
Congenital abduction contracture of hip (disorder)

# compose.include[].concept[].display
Central polydactyly of fingers (disorder)

# compose.include[].concept[].display
Simple syndactyly of fingers - first web (disorder)

# compose.include[].concept[].display
Simple syndactyly of fingers - second to fourth web (disorder)

# compose.include[].concept[].display
Osseous syndactyly of fingers - first web (disorder)

# compose.include[].concept[].display
Osseous syndactyly of fingers - second to fourth web (disorder)

# compose.include[].concept[].display
Simple syndactyly of toes, first web space (disorder)

# compose.include[].concept[].display
Simple syndactyly lesser toes (disorder)

# compose.include[].concept[].display
Osseous syndactyly of toes first web space (disorder)

# compose.include[].concept[].display
Osseous syndactyly lesser toes (disorder)

# compose.include[].concept[].display
Congenital amputation of upper limb (disorder)

# compose.include[].concept[].display
Transverse deficiency of arm, upper arm level - short (disorder)

# compose.include[].concept[].display
Transverse deficiency of arm, upper arm level - long (disorder)

# compose.include[].concept[].display
Transverse arrest carpal level (disorder)

# compose.include[].concept[].display
Transverse arrest metacarpal first ray (disorder)

# compose.include[].concept[].display
Transverse arrest phalangeal level first ray (disorder)

# compose.include[].concept[].display
Transverse arrest phalangeal level second ray (disorder)

# compose.include[].concept[].display
Transverse arrest phalangeal level third ray (disorder)

# compose.include[].concept[].display
Transverse arrest phalangeal level fourth ray (disorder)

# compose.include[].concept[].display
Transverse arrest phalangeal level fifth ray (disorder)

# compose.include[].concept[].display
Transverse deficiency lower limb - hip level (disorder)

# compose.include[].concept[].display
Transverse deficiency lower limb - metatarsal level (disorder)

# compose.include[].concept[].display
Transverse deficiency lower limb - through femur (disorder)

# compose.include[].concept[].display
Transverse deficiency lower limb - through tibia/fibula (disorder)

# compose.include[].concept[].display
Proximal femoral focal deficiency (disorder)

# compose.include[].concept[].display
Congenital tibial deficiency type I (disorder)

# compose.include[].concept[].display
Congenital tibial deficiency type II (disorder)

# compose.include[].concept[].display
Congenital tibial deficiency type III (disorder)

# compose.include[].concept[].display
Congenital fibular deficiency type I (disorder)

# compose.include[].concept[].display
Congenital fibular deficiency type II (disorder)

# compose.include[].concept[].display
Congenital fibular deficiency type III (disorder)

# compose.include[].concept[].display
Agenesis of tarsals and metatarsals (disorder)

# compose.include[].concept[].display
Agenesis of multiple tarsal bones (disorder)

# compose.include[].concept[].display
Agenesis of fourth and fifth metatarsals (disorder)

# compose.include[].concept[].display
Congenital absence of great toe (disorder)

# compose.include[].concept[].display
Congenital absence of fifth toe (disorder)

# compose.include[].concept[].display
Congenital absence of fourth and fifth toes (disorder)

# compose.include[].concept[].display
Radioulnar synostosis and dislocation of radial head (disorder)

# compose.include[].concept[].display
Macrodactyly of fingers - simple (disorder)

# compose.include[].concept[].display
Macrodactyly of fingers- fatty nerve tumor (disorder)

# compose.include[].concept[].display
Aberrant forearm flexor muscle (disorder)

# compose.include[].concept[].display
Aberrant forearm extensor muscle (disorder)

# compose.include[].concept[].display
Overgrowth of whole upper limb (disorder)

# compose.include[].concept[].display
Overgrowth of partial upper limb (disorder)

# compose.include[].concept[].display
Constriction ring syndrome of upper limb (disorder)

# compose.include[].concept[].display
Constriction ring of upper limb with acrosyndactyly and amputation (disorder)

# compose.include[].concept[].display
Congenital complete absence of upper limb (disorder)

# compose.include[].concept[].display
Clinodactyly with delta phalanx (disorder)

# compose.include[].concept[].display
Clinodactyly, with no delta phalanx (disorder)

# compose.include[].concept[].display
Macrodactyly of toes - simple (disorder)

# compose.include[].concept[].display
Macrodactyly of toes - fatty nerve tumor (disorder)

# compose.include[].concept[].display
Brachyphalangia of little toe (disorder)

# compose.include[].concept[].display
Perodactylia of multiple toes (disorder)

# compose.include[].concept[].display
Failure of soft tissue differentiation of lower limb (disorder)

# compose.include[].concept[].display
Aberrant muscle of the lower limb (disorder)

# compose.include[].concept[].display
Failure of differentiation of bones of lower limb (disorder)

# compose.include[].concept[].display
Congenital synostosis of lower limb bones (disorder)

# compose.include[].concept[].display
Duplication of lower limb bone (disorder)

# compose.include[].concept[].display
Congenital overgrowth of lower limb (disorder)

# compose.include[].concept[].display
Congenital overgrowth of proximal lower limb (disorder)

# compose.include[].concept[].display
Congenital overgrowth of distal lower limb (disorder)

# compose.include[].concept[].display
Congenital overgrowth of foot (disorder)

# compose.include[].concept[].display
Congenital overgrowth of whole lower limb (disorder)

# compose.include[].concept[].display
Brachymetapodia of first metatarsal (disorder)

# compose.include[].concept[].display
Brachymetapodia of fourth metatarsal (disorder)

# compose.include[].concept[].display
Constriction ring syndrome of lower limb (disorder)

# compose.include[].concept[].display
Constriction ring of lower limb with lymphedema (disorder)

# compose.include[].concept[].display
Constriction ring syndrome of lower limb with amputation (disorder)

# compose.include[].concept[].display
Congenital angulation of tibia (disorder)

# compose.include[].concept[].display
Congenital ball and socket ankle (disorder)

# compose.include[].concept[].display
Cervical hemivertebra - unbalanced (disorder)

# compose.include[].concept[].display
Thoracic hemivertebra - unbalanced (disorder)

# compose.include[].concept[].display
Lumbar hemivertebra - balanced (disorder)

# compose.include[].concept[].display
Lumbar hemivertebra - unbalanced (disorder)

# compose.include[].concept[].display
Congenital complete fusion of spine (disorder)

# compose.include[].concept[].display
Congenital partial fusion of spine - balanced (disorder)

# compose.include[].concept[].display
Congenital partial fusion of spine - unbalanced (disorder)

# compose.include[].concept[].display
Congenital partial fusion of spine with hemivertebra - balanced (disorder)

# compose.include[].concept[].display
Congenital partial fusion of spine with hemivertebra - unbalanced (disorder)

# compose.include[].concept[].display
Short rib polydactyly syndrome (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta type II (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta type IV (disorder)

# compose.include[].concept[].display
Congenital pigmentary skin anomalies (disorder)

# compose.include[].concept[].display
Congenital cyst of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital absence of pituitary gland (disorder)

# compose.include[].concept[].display
Complete situs inversus with dextrocardia (disorder)

# compose.include[].concept[].display
Situs inversus with levocardia (disorder)

# compose.include[].concept[].display
Congenital malformation syndromes affecting facial appearance (disorder)

# compose.include[].concept[].display
Congenital malformation syndromes associated with short stature (disorder)

# compose.include[].concept[].display
Congenital malformation syndromes involving limbs (disorder)

# compose.include[].concept[].display
Congenital malformation syndromes with metabolic disturbances (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, type 2 (disorder)

# compose.include[].concept[].display
Colloid cyst of third ventricle (disorder)

# compose.include[].concept[].display
Congenital hypothyroidism with ectopic thyroid (disorder)

# compose.include[].concept[].display
Congenital iodine deficiency syndrome (disorder)

# compose.include[].concept[].display
Congenital anomaly of middle ear (disorder)

# compose.include[].concept[].display
Congenital valgus deformity of foot (disorder)

# compose.include[].concept[].display
Congenital anomaly of vena cava (disorder)

# compose.include[].concept[].display
Congenital anomaly of the peripheral nervous system (disorder)

# compose.include[].concept[].display
Congenital absence of ear lobe (disorder)

# compose.include[].concept[].display
Congenital absence of bladder (disorder)

# compose.include[].concept[].display
Congenital absence of salivary gland (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava (disorder)

# compose.include[].concept[].display
Congenital septation of gallbladder (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of phalanges of hand (disorder)

# compose.include[].concept[].display
Myelinated nerve fibers of optic disc (disorder)

# compose.include[].concept[].display
Congenital failure of eye elevation (disorder)

# compose.include[].concept[].display
Congenital neuropathy with arthrogryposis multiplex congenita (disorder)

# compose.include[].concept[].display
Congenital anomaly of cricoid cartilage (disorder)

# compose.include[].concept[].display
Congenital atresia of mitral valve (disorder)

# compose.include[].concept[].display
Lattice corneal dystrophy, isolated form (disorder)

# compose.include[].concept[].display
Central serous retinopathy with pit of optic disc (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of retinal pigment epithelium (disorder)

# compose.include[].concept[].display
Congenital deformity of pinna (disorder)

# compose.include[].concept[].display
Structural anomaly of the cochlea and vestibular labyrinth (disorder)

# compose.include[].concept[].display
Aplasia of the cochlea and vestibular labyrinth (disorder)

# compose.include[].concept[].display
Congenital deformity of labyrinth (disorder)

# compose.include[].concept[].display
Incomplete formation of the bony cochlea (disorder)

# compose.include[].concept[].display
Choanal atresia with radial ray hypoplasia (disorder)

# compose.include[].concept[].display
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with facial-limb defects as major feature (disorder)

# compose.include[].concept[].display
Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder)

# compose.include[].concept[].display
Immotile cilia syndrome due to defective radial spokes (disorder)

# compose.include[].concept[].display
Congenital stricture of ureterovesical orifice (disorder)

# compose.include[].concept[].display
Persistence of primitive artery (disorder)

# compose.include[].concept[].display
Persistent cerebral embryonic artery (disorder)

# compose.include[].concept[].display
True congenital varicose veins (disorder)

# compose.include[].concept[].display
Congenital abnormality of great veins and coronary sinus (disorder)

# compose.include[].concept[].display
Congenital arteriovenous fistula of brain (disorder)

# compose.include[].concept[].display
Specific mixed vascular syndrome (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - recessive - rough (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - hypomaturation - recessive pigmented (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta - hypomaturation - snow capped teeth (disorder)

# compose.include[].concept[].display
Dentinogenesis imperfecta - Shield's type I (disorder)

# compose.include[].concept[].display
Dentinogenesis imperfecta - Shield's type II (disorder)

# compose.include[].concept[].display
Dentinogenesis imperfecta - Shield's type III (disorder)

# compose.include[].concept[].display
Midline sinus of the upper lip (disorder)

# compose.include[].concept[].display
Congenital stenosis of vagina (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IA (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIA (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIB (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIC (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIIA (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIIB (disorder)

# compose.include[].concept[].display
Ichthyosis congenita with biliary atresia (disorder)

# compose.include[].concept[].display
Congenital malformation of pancreas (disorder)

# compose.include[].concept[].display
Prune belly syndrome with pulmonic stenosis, mental retardation and deafness (disorder)

# compose.include[].concept[].display
Congenital abnormality of scrotum (disorder)

# compose.include[].concept[].display
Congenital pyloric antral membrane (disorder)

# compose.include[].concept[].display
Hypogonadism with prune belly syndrome (disorder)

# compose.include[].concept[].display
Congenital anomaly of bone and joint (disorder)

# compose.include[].concept[].display
Congenital iodine deficiency syndrome - mixed type (disorder)

# compose.include[].concept[].display
Congenital iodine deficiency syndrome - neurological type (disorder)

# compose.include[].concept[].display
Late onset congenital adrenal hyperplasia (disorder)

# compose.include[].concept[].display
Congenital adrenal hyperplasia - desmolase deficiency (disorder)

# compose.include[].concept[].display
Autosomal dominant hypophosphatemic bone disease (disorder)

# compose.include[].concept[].display
Congenital dislocation of shoulder (disorder)

# compose.include[].concept[].display
Congenital anomaly of peripheral nerve (disorder)

# compose.include[].concept[].display
Greither type of ectodermal dysplasia (disorder)

# compose.include[].concept[].display
Anonychia with bizarre flexural pigmentation (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with hair-tooth-nail defects (disorder)

# compose.include[].concept[].display
Fried's tooth and nail syndrome (disorder)

# compose.include[].concept[].display
Hypodontia and nail dysgenesis (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia, syndactyly and pili torti (disorder)

# compose.include[].concept[].display
Dwarfism, alopecia, pseudoanodontia, cutis laxa (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with hair-tooth defects (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with hair-nail defect (disorder)

# compose.include[].concept[].display
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with tooth-nail defects (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with tooth-sweating defect (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with nail defect (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with sweating defect (disorder)

# compose.include[].concept[].display
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections (disorder)

# compose.include[].concept[].display
Multiple benign annular creases of extremities (disorder)

# compose.include[].concept[].display
Reticulate pigmented anomaly of flexures (disorder)

# compose.include[].concept[].display
Cutaneous syndrome with ichthyosis (disorder)

# compose.include[].concept[].display
Keratitis ichthyosis and deafness syndrome (disorder)

# compose.include[].concept[].display
Atypical ichthyosis vulgaris with hypogonadism (disorder)

# compose.include[].concept[].display
Progressive palmoplantar keratoderma of Greither (disorder)

# compose.include[].concept[].display
Epidermolytic palmoplantar keratoderma of Vorner (disorder)

# compose.include[].concept[].display
Congenital palmoplantar and perioral keratoderma of Olmsted (disorder)

# compose.include[].concept[].display
Keratoderma with scleroatrophy of the extremities (disorder)

# compose.include[].concept[].display
Congenital erector pili hamartoma (disorder)

# compose.include[].concept[].display
Diffuse smooth muscle hamartoma (disorder)

# compose.include[].concept[].display
Congenital absence of skin on scalp (disorder)

# compose.include[].concept[].display
Congenital absence of skin on scalp with epidermal nevi (disorder)

# compose.include[].concept[].display
Hydrocephalus due to Arnold Chiari malformation type 2 (disorder)

# compose.include[].concept[].display
Arnold Chiari type 2 without hydrocephalus (disorder)

# compose.include[].concept[].display
X-linked muscular dystrophy with limb girdle distribution (disorder)

# compose.include[].concept[].display
X-linked muscular dystrophy with abnormal dystrophin (disorder)

# compose.include[].concept[].display
Manifesting female carrier of X-linked muscular dystrophy (disorder)

# compose.include[].concept[].display
X-linked limb girdle muscular dystrophy with normal dystrophin (disorder)

# compose.include[].concept[].display
Hereditary myopathy limited to females (disorder)

# compose.include[].concept[].display
Reunion-Indiana Amish type muscular dystrophy (disorder)

# compose.include[].concept[].display
Western type of congenital muscular dystrophy (disorder)

# compose.include[].concept[].display
Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder)

# compose.include[].concept[].display
Ullrich congenital muscular dystrophy (disorder)

# compose.include[].concept[].display
Eichsfeld type congenital muscular dystrophy (disorder)

# compose.include[].concept[].display
Hutterite type of muscular dystrophy (disorder)

# compose.include[].concept[].display
Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder)

# compose.include[].concept[].display
Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)

# compose.include[].concept[].display
Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder)

# compose.include[].concept[].display
Late onset proximal muscular dystrophy with dysarthria (disorder)

# compose.include[].concept[].display
X-linked muscular dystrophy not predominantly limb girdle (disorder)

# compose.include[].concept[].display
Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder)

# compose.include[].concept[].display
Autosomal recessive muscular dystrophy not predominantly limb girdle (disorder)

# compose.include[].concept[].display
Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder)

# compose.include[].concept[].display
Benign congenital muscular dystrophy with finger flexion contractures (disorder)

# compose.include[].concept[].display
Myopathy with abnormality of histochemical fiber type (disorder)

# compose.include[].concept[].display
Myopathy with type I hypotrophy (disorder)

# compose.include[].concept[].display
Congenital myopathy with fiber type disproportion (disorder)

# compose.include[].concept[].display
Congenital myopathy with uniform fiber type (disorder)

# compose.include[].concept[].display
Myopathy with cytoplasmic inclusions (disorder)

# compose.include[].concept[].display
Myopathy with tubular aggregates (disorder)

# compose.include[].concept[].display
Complete bilateral cleft palate (disorder)

# compose.include[].concept[].display
Congenital dilatation of colon (disorder)

# compose.include[].concept[].display
Congenital absence of broad ligament (disorder)

# compose.include[].concept[].display
Structural developmental anomalies of neurenteric canal (disorder)

# compose.include[].concept[].display
Congenital anomaly of sternocleidomastoid muscle (disorder)

# compose.include[].concept[].display
Salt-losing congenital adrenal hyperplasia with virilism (disorder)

# compose.include[].concept[].display
Right ventricular muscular infundibular stenosis (disorder)

# compose.include[].concept[].display
Bicuspid doming of aortic cusp (disorder)

# compose.include[].concept[].display
Aortic root congenital abnormality (disorder)

# compose.include[].concept[].display
Congenital malformation of angle of anterior chamber of eye (disorder)

# compose.include[].concept[].display
Thoracolumbar spina bifida without hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Closed spina bifida with Arnold-Chiari malformation (disorder)

# compose.include[].concept[].display
Thoracolumbar spina bifida with hydrocephalus - closed (disorder)

# compose.include[].concept[].display
Myelodysplasia of spinal cord (disorder)

# compose.include[].concept[].display
Defect of telencephalic division (disorder)

# compose.include[].concept[].display
Agenesis of corpus callosum with lipoma (disorder)

# compose.include[].concept[].display
Partial agenesis of corpus callosum (disorder)

# compose.include[].concept[].display
Reduction anomaly of hypothalamus (disorder)

# compose.include[].concept[].display
Disorder of neuronal migration and differentiation (disorder)

# compose.include[].concept[].display
Familial aplasia of the vermis (disorder)

# compose.include[].concept[].display
Abnormality of canalization and retrogressive differentiation (disorder)

# compose.include[].concept[].display
Fibrolipoma of filum terminale (disorder)

# compose.include[].concept[].display
Vascular malformation of the nervous system (disorder)

# compose.include[].concept[].display
Persistent embryonic otic artery (disorder)

# compose.include[].concept[].display
Congenital malformation of the meninges (disorder)

# compose.include[].concept[].display
Congenital malformation of eye, ear and neck (disorder)

# compose.include[].concept[].display
Congenital malformation of the eyebrow (disorder)

# compose.include[].concept[].display
Agenesis of nasolacrimal duct (disorder)

# compose.include[].concept[].display
Congenital anterior polar cataract (disorder)

# compose.include[].concept[].display
Congenital posterior polar cataract (disorder)

# compose.include[].concept[].display
Congenital malformation of vitreous humor (disorder)

# compose.include[].concept[].display
Partial hypoplasia of optic disc (disorder)

# compose.include[].concept[].display
Sectorial hypoplasia of optic disc (disorder)

# compose.include[].concept[].display
Congenital stricture of osseous meatus (disorder)

# compose.include[].concept[].display
Congenital heart disease, septal and bulbar anomalies (disorder)

# compose.include[].concept[].display
Congenital abnormality of relationship of cardiac component (disorder)

# compose.include[].concept[].display
Abnormal relationship of right ventricle to left ventricle (disorder)

# compose.include[].concept[].display
Abnormal relationship of aortic orifice to pulmonary orifice (disorder)

# compose.include[].concept[].display
Congenital abnormality of cardiac connection (disorder)

# compose.include[].concept[].display
Absent atrioventricular connection with straddling valve (disorder)

# compose.include[].concept[].display
Double inlet to ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Absent right sided atrioventricular connection (disorder)

# compose.include[].concept[].display
Left sided atrium connecting to left ventricle (disorder)

# compose.include[].concept[].display
Left sided atrium connecting to right ventricle (disorder)

# compose.include[].concept[].display
Left sided atrium connecting to both ventricles (disorder)

# compose.include[].concept[].display
Left sided atrium connecting to ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Absent left sided atrioventricular connection (disorder)

# compose.include[].concept[].display
Right sided atrium connecting to right ventricle (disorder)

# compose.include[].concept[].display
Right sided atrium connecting to both ventricles (disorder)

# compose.include[].concept[].display
Right sided atrium connecting to ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Double outlet right ventricle with subaortic ventricular septal defect (disorder)

# compose.include[].concept[].display
Double outlet right ventricle with noncommitted ventricular septal defect (disorder)

# compose.include[].concept[].display
Double outlet right ventricle with doubly committed ventricular septal defect (disorder)

# compose.include[].concept[].display
Double outlet from ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Solitary aortic trunk with pulmonary atresia (disorder)

# compose.include[].concept[].display
Solitary pulmonary trunk with aortic atresia (disorder)

# compose.include[].concept[].display
Abnormality of right superior vena cava (disorder)

# compose.include[].concept[].display
Atretic right superior vena cava (disorder)

# compose.include[].concept[].display
Absent right superior vena cava (disorder)

# compose.include[].concept[].display
Anomalous insertion of right superior vena cava to left atrium (disorder)

# compose.include[].concept[].display
Inferior vena cava interruption with left sided hemiazygos continuation (disorder)

# compose.include[].concept[].display
Inferior vena cava interruption with right sided azygos continuation (disorder)

# compose.include[].concept[].display
Inferior vena cava interruption with bilateral azygos continuation (disorder)

# compose.include[].concept[].display
Abnormal inferior vena caval connection (disorder)

# compose.include[].concept[].display
Inferior vena cava connecting to morphological left atrium (disorder)

# compose.include[].concept[].display
Inferior vena cava connecting to coronary sinus (disorder)

# compose.include[].concept[].display
Inferior vena cava to left of spine (disorder)

# compose.include[].concept[].display
Inferior cava to left of spine with right descending aorta (disorder)

# compose.include[].concept[].display
Anomalous termination of right pulmonary vein (disorder)

# compose.include[].concept[].display
Coronary sinus defect in left atrium (disorder)

# compose.include[].concept[].display
Coronary sinus orifice atresia (disorder)

# compose.include[].concept[].display
Congenital coronary sinus stenosis (disorder)

# compose.include[].concept[].display
Abnormal connection of hepatic vein to atrium (disorder)

# compose.include[].concept[].display
Isomerism of atrial appendages (disorder)

# compose.include[].concept[].display
Isomerism of right atrial appendage (disorder)

# compose.include[].concept[].display
Isomerism of left atrial appendage (disorder)

# compose.include[].concept[].display
Anomalous valve of coronary sinus (disorder)

# compose.include[].concept[].display
Left atrial appendage - right - juxtaposition (disorder)

# compose.include[].concept[].display
Foramen ovale valvar aneurysm (disorder)

# compose.include[].concept[].display
Atrial septal defect through coronary sinus orifice (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect - isolated atrial component (disorder)

# compose.include[].concept[].display
Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder)

# compose.include[].concept[].display
Dilatation of tricuspid annulus (disorder)

# compose.include[].concept[].display
Double orifice of tricuspid valve (disorder)

# compose.include[].concept[].display
Accessory tissue on tricuspid leaflet (disorder)

# compose.include[].concept[].display
Parachute malformation of tricuspid valve (disorder)

# compose.include[].concept[].display
Absent tricuspid papillary muscle (disorder)

# compose.include[].concept[].display
Fused tricuspid papillary muscle (disorder)

# compose.include[].concept[].display
Congenital absence of vena cava (disorder)

# compose.include[].concept[].display
Ebstein-like downward displacement of mitral valve (disorder)

# compose.include[].concept[].display
Anterior leaflet of mitral valve attached to septum (disorder)

# compose.include[].concept[].display
Accessory tissue on mitral leaflet (disorder)

# compose.include[].concept[].display
Absent mitral papillary muscle (disorder)

# compose.include[].concept[].display
Fused mitral papillary muscles (disorder)

# compose.include[].concept[].display
Hypoplastic mitral papillary muscle (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect and common atrioventricular junction (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect - isolated ventricular component (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect: atrial and ventricular components (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect - ventricular component (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect - ventricular component under superior bridging leaflet (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect - ventricular component under inferior bridging leaflet (disorder)

# compose.include[].concept[].display
Congenital abnormality of ventricles and ventricular septum (disorder)

# compose.include[].concept[].display
Tetralogy of Fallot with pulmonary stenosis (disorder)

# compose.include[].concept[].display
Tetralogy of Fallot with pulmonary atresia (disorder)

# compose.include[].concept[].display
Dextraposition of aorta in Fallot's tetralogy (disorder)

# compose.include[].concept[].display
Ventricular septal defect in Fallot's tetralogy (disorder)

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Diffuse hypoplasia of right ventricle (disorder)

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Hypoplasia of right ventricular inflow tract (disorder)

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Hypoplasia of right ventricular outflow tract (disorder)

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Hypoplasia of right ventricular outflow tract and trabecular area (disorder)

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Two chambered right ventricle (disorder)

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Congenital right ventricular aneurysm (disorder)

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Right ventricular outflow tract abnormality (disorder)

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Right ventricular outflow tract obstruction (disorder)

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Right ventricular outflow obstruction - localized (disorder)

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Right ventricular outflow obstruction - tubular (disorder)

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Right ventricular outflow tract atresia (disorder)

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Right ventricular outflow tract absent (disorder)

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Diffuse hypoplasia of left ventricle (disorder)

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Hypoplasia of left ventricular inflow tract (disorder)

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Hypoplasia of left ventricular outflow tract (disorder)

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Hypoplasia of left ventricular outflow tract and trabecular area (disorder)

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Abnormal left ventricular muscle band (disorder)

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Congenital left ventricular aneurysm (disorder)

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Left ventricular outflow tract abnormality (disorder)

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Left ventricular outflow tract obstruction (disorder)

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Left ventricular outflow tract atresia (disorder)

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Multiple ventricular septal defects (disorder)

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Restrictive ventricular septal defect (disorder)

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Perimembranous ventricular septal defect with extension to right ventricular inlet (disorder)

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Perimembranous ventricular septal defect with extension to right ventricular trabecular component (disorder)

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Perimembranous ventricular septal defect with extension to right ventricular outlet (disorder)

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Perimembranous ventricular septal defect with extension to all right ventricular components (disorder)

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Ventricular septal defect with malaligned outlet septum to right (disorder)

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Ventricular septal defect with malaligned outlet septum to left (disorder)

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Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder)

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Muscular ventricular septal defect in inlet septum (disorder)

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Muscular ventricular septal defect in central trabecular septum (disorder)

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Muscular ventricular septal defect in apical trabecular septum (disorder)

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Muscular ventricular septal defect in marginal septum (disorder)

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Muscular ventricular septal defect in outlet septum (disorder)

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Doubly committed subarterial ventricular septal defect (disorder)

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Doubly committed subarterial ventricular septal defect with membranous septum extension (disorder)

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Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim (disorder)

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Giant ventricular septal defect (disorder)

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Congenital abnormality of arterial valves (disorder)

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Accessory tissue on truncal valve cusp (disorder)

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Pulmonary valve cusp hypoplasia (disorder)

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Pulmonary valve ring hypoplasia (disorder)

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Commissural fusion of pulmonary valve (disorder)

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Pulmonary atresia with ventricular septal defect (disorder)

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Absent pulmonary valve syndrome (disorder)

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Accessory tissue on pulmonary valve cusp (disorder)

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Commissural fusion of aortic valve (disorder)

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Eccentric opening of aortic valve (disorder)

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Hypoplasia of aortic valve cusp (disorder)

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Accessory tissue on aortic valve cusp (disorder)

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Abnormal number of aortic valve cusps (disorder)

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Anomalies of the aorta excluding coarction (disorder)

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Pulmonary atresia with confluent pulmonary arteries (disorder)

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Pulmonary atresia with absent pulmonary artery (disorder)

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Pulmonary trunk absent with confluent pulmonary arteries (disorder)

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Pulmonary trunk absent with non-confluent pulmonary arteries (disorder)

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Pulmonary trunk absent with absent pulmonary artery (disorder)

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Abnormal origin of right pulmonary artery (disorder)

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Anomalous origin of right pulmonary artery from ductus arteriosus (disorder)

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Anomalous origin of right pulmonary artery from ascending aorta (disorder)

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Abnormal origin of left pulmonary artery (disorder)

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Anomalous origin of left pulmonary artery from ductus arteriosus (disorder)

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Anomalous origin of left pulmonary artery from ascending aorta (disorder)

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Anomalous origin of left pulmonary artery from right pulmonary artery (disorder)

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Congenital aneurysm of ascending aorta (disorder)

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Aorta to right ventricle tunnel (disorder)

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Left aortic arch and right descending aorta (disorder)

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Right aortic arch and right descending aorta (disorder)

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Right aortic arch and left descending aorta (disorder)

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Aortic arch centrally descending (disorder)

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Double aortic arch with both patent (disorder)

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Vascular ring with left aortic arch (disorder)

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Vascular ring with right aortic arch (disorder)

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Isolation of subclavian artery (disorder)

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Ductus arteriosus from subclavian artery (disorder)

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Ductus arteriosus from retroesophageal aortic diverticulum (disorder)

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Preductal interruption of aorta (disorder)

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Preductal hypoplasia of aorta (disorder)

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Postductal interruption of aorta (disorder)

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Postductal hypoplasia of aorta (disorder)

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Interrupted aortic arch distal to left subclavian artery (disorder)

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Interrupted aortic arch between left subclavian and left common carotid artery (disorder)

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Interrupted aortic arch between left common carotid and brachiocephalic artery (disorder)

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Patent ductus arteriosus - delayed closure (disorder)

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Abnormal origin of ductus arteriosus (disorder)

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Collaterals to pulmonary arteries (disorder)

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Systemic to pulmonary collateral artery (disorder)

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Stenosis of systemic to pulmonary artery collateral artery (disorder)

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Congenital abnormalities of thoracic aortic branches (disorder)

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Distal origin of brachiocephalic trunk (disorder)

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Isolation of branch of aortic arch (disorder)

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Isolation of brachiocephalic trunk (disorder)

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Isolation of common carotid artery (disorder)

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Variant coronary origin from aortic sinus (disorder)

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Anomalous origin of coronary artery from non-facing sinus (disorder)

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Anomalous origin of left anterior descending from right coronary artery (disorder)

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Anomalous origin of coronary artery from pulmonary arterial tree (disorder)

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Anomalous origin of coronary artery from right pulmonary artery (disorder)

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Anomalous origin of coronary artery from left pulmonary artery (disorder)

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Coronary orifice abnormally high (disorder)

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Abnormal coronary artery course (disorder)

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Intramural coronary artery course (disorder)

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Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder)

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Coronary artery runs between aorta and pulmonary trunk (disorder)

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Circumflex runs posterior to pulmonary trunk (disorder)

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Circumflex runs posterior to aorta (disorder)

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Right dominant coronary system (disorder)

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Left dominant coronary system (disorder)

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Partial agenesis of pericardium (disorder)

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Congenital malformation of trachea and bronchus (disorder)

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Ectopic bone and cartilage in lung (disorder)

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Congenital malformation of tongue, mouth and pharynx (disorder)

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Congenital malformation of salivary glands and ducts (disorder)

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Displacement of Wharton's duct (disorder)

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Congenital absence, atresia and stenosis of small intestine (disorder)

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Congenital blind loop syndrome (disorder)

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Congenital redundant rectal mucosa (disorder)

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Partial duplication of appendix (disorder)

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Complete duplication of appendix (disorder)

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Congenital kink of cystic duct (disorder)

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Focal nodular hypoplasia of liver (disorder)

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Congenital absent hemidiaphragm - bilateral (disorder)

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Congenital malformation of anterior abdominal wall (disorder)

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Embryonic cyst of broad ligament (disorder)

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Congenital malformation of uterus and cervix (disorder)

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Hypoplasia of uterus and cervix (disorder)

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Congenital absence of labium minor (disorder)

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Congenital absence of labium major (disorder)

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Duplication of external genitalia (disorder)

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Congenital malformation of clitoris (disorder)

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Maldescent of testis, bilateral (disorder)

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Congenital malformation of the urinary system (disorder)

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Crossed ectopia of kidney, without fusion (disorder)

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Crossed ectopia of kidney with fusion anomaly (disorder)

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Duplex kidney with reflux in one ureter (disorder)

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Duplex kidney with reflux in both ureters (disorder)

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Medullary sponge kidney with nephrocalcinosis (disorder)

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Medullary sponge kidney without nephrocalcinosis (disorder)

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Congenital obstructive defect of renal pelvis (disorder)

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Congenital diverticulum of ureter (disorder)

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Congenital posterior urethral valves (disorder)

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Congenital urethral posterior valvular stricture (disorder)

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Congenital anterior urethral valve (disorder)

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Aberrant muscle of the upper limb (disorder)

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Failure of differentiation of bones of forearm (disorder)

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Duplication of whole upper limb (disorder)

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Acrosyndactyly of the fingers (disorder)

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Congenital abnormality of lower limb and pelvic girdle (disorder)

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Duplication of whole lower limb (disorder)

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Duplication of the whole foot (disorder)

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Congenital overgrowth of partial lower limb (disorder)

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Congenital undergrowth of partial lower limb (disorder)

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Congenital deformity of foot and ankle (disorder)

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Agenesis of multiple metatarsal bones (disorder)

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Congenital abnormality of foot and toes (disorder)

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Simple syndactyly of toes second to fourth web (disorder)

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Osseous syndactyly of toes second to fourth web (disorder)

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Bilateral complete and incomplete cleft lip (disorder)

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Bilateral incomplete cleft lip and alveolus (disorder)

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Incomplete cleft hard and soft palate (disorder)

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Complete cleft hard and soft palate (disorder)

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Complete cleft of soft palate (disorder)

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Incomplete cleft of soft palate (disorder)

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Occult submucous cleft palate (disorder)

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Midline facial cleft - Tessier cleft 0 (disorder)

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Midline facial cleft - Tessier cleft 14 (disorder)

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Midline facial cleft - Tessier cleft 30 (disorder)

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Paramedian facial cleft - Tessier cleft 1 (disorder)

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Paramedian facial cleft - Tessier cleft 2 (disorder)

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Paramedian facial cleft - Tessier cleft 3 (disorder)

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Supraorbital facial cleft - Tessier cleft 8 (disorder)

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Supraorbital facial cleft - Tessier cleft 9 (disorder)

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Supraorbital facial cleft - Tessier cleft 10 (disorder)

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Supraorbital facial cleft - Tessier cleft 11 (disorder)

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Supraorbital facial cleft - Tessier cleft 12 (disorder)

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Supraorbital facial cleft - Tessier cleft 13 (disorder)

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Infraorbital facial cleft - Tessier cleft 4 (disorder)

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Infraorbital facial cleft - Tessier cleft 5 (disorder)

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Infraorbital facial cleft - Tessier cleft 6 (disorder)

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Infraorbital facial cleft - Tessier cleft 7 (disorder)

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Congenital abnormality of skull shape (disorder)

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Congenital deformity of lumbosacral region (disorder)

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Congenital deformity of lumbosacral joint (disorder)

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Congenital malformation of sternum (disorder)

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Defects of the tubular (and flat) bones and/or axial skeleton (disorder)

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Spondylodysplasia, San Diego type (disorder)

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Type III short rib polydactyly syndrome (disorder)

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Type IV short rib polydactyly syndrome (disorder)

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Spondylometaphyseal dysplasia - Sutcliffe type (disorder)

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Brachyrachia (short spine dysplasia) (disorder)

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Dysplasias with significant membranous bone involvement (disorder)

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Multiple dislocations with dysplasia (disorder)

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Osteodysplastic primordial dwarfism, type 1 (disorder)

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Osteodysplastic primordial dwarfism, type 2 (disorder)

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Dysplasia with decreased bone density (disorder)

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Osteogenesis imperfecta type IIA (disorder)

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Osteogenesis imperfecta type IIB (disorder)

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Dysplasia with increased bone density (disorder)

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Osteopetrosis - intermediate type (disorder)

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Osteopetrosis with renal tubular acidosis (disorder)

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Osteosclerosis - Stanescu type (disorder)

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Osteopathia striata with cranial sclerosis (disorder)

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Endosteal hyperostoses with cerebellar hypoplasia (disorder)

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Craniometaphyseal dysplasia - severe type (disorder)

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Craniometaphyseal dysplasia - mild type (disorder)

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Oculodento-osseous dysplasia - severe type (disorder)

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Oculodento-osseous dysplasia - mild type (disorder)

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Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)

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Ichthyosis bullosa of Siemens (disorder)

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Ichthyosis hystrix of Curth-Macklin (disorder)

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Ichthyosis hystrix gravior of Rheydt (disorder)

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Hystrix ichthyosis with deafness (disorder)

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Epidermolysis bullosa simplex with hypodontia (disorder)

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Epidermolysis bullosa simplex with mottled pigmentation (disorder)

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Lethal autosomal recessive epidermolysis bullosa simplex (disorder)

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Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)

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Inherited disorder of keratinization (disorder)

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Neonatal cutis laxa with marfanoid phenotype (disorder)

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Cutis laxa, recessive, type I (disorder)

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Cutis laxa, recessive, type II (disorder)

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Congenital alopecia with keratin cysts (disorder)

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Hypotrichosis with keratosis pilaris and lentiginosis (disorder)

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Congenital retraction of nipple (disorder)

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Ash leaf spot, tuberous sclerosis (disorder)

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Congenital malformation caused by cytotoxic agents (disorder)

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Congenital malformation of anterior pituitary (disorder)

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Congenital malformation of posterior pituitary (disorder)

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Malignant melanoma arising in congenital nevus (disorder)

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Arteriovenous malformation of skin (disorder)

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Cavernous lymphangioma of skin (disorder)

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Congenital giant pigmented nevus of skin (disorder)

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Congenital absence of left pulmonary artery (disorder)

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Syndactyly of fingers with fusion of bones (disorder)

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Congenital fissure of sternum (disorder)

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Congenital absence of external auditory canal (disorder)

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Complete transposition of great vessels (disorder)

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Congenital atresia of esophagus (disorder)

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Aortic left ventricular tunnel (disorder)

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Upper moiety ureter of duplex kidney (disorder)

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Lower moiety ureter of duplex kidney (disorder)

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Aland eye disease and ocular albinism (disorder)

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Congenital absence of part of brain (disorder)

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Congenital non bullous ichthyosiform erythroderma (disorder)

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Rieger eye malformation sequence (disorder)

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Coarctation of pulmonary artery (disorder)

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Spina bifida with hydrocephalus - open (disorder)

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Spina bifida without hydrocephalus - open (disorder)

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Ear auricle and external auditory canal absent (disorder)

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Congenital malposition of ear (disorder)

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Branchial cleft sinus and fistula (disorder)

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Bulbus cordis and cardiac septal closure anomalies (disorder)

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Right hypoplastic heart syndrome (disorder)

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Congenital pulmonary artery aneurysm (disorder)

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Central incomplete cleft palate (disorder)

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Esophageal atresia, stenosis and fistula (disorder)

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Atresia and stenosis of large intestine, rectum and anal canal (disorder)

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Congenital abnormality of liver and/or biliary tract (disorder)

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Embryonic cyst of fallopian tube and broad ligament (disorder)

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Undescended testes - bilateral (disorder)

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Congenital bladder neck stenosis (disorder)

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Congenital abnormality of skull and face bones (disorder)

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Genu recurvatum and long leg bone bowing (disorder)

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Constriction ring of upper limb with lymphedema (disorder)

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Congenital anomalies of elbow and upper arm (disorder)

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Congenital absence of superior vena cava (disorder)

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Dominant dystrophic epidermolysis bullosa with absence of skin (disorder)

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Central complete cleft palate (disorder)

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Triple kidney with triple pelvis (disorder)

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Agenesis of carpals and metacarpals (disorder)

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Localized congenital skull defect (disorder)

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Congenital instability of hip joint (disorder)

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Congenital absence of breast with absent nipple (disorder)

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Congenital renal artery stenosis (disorder)

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Aberrant intrinsic muscles of hand (disorder)

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Congenital abnormality of thoracic aorta and pulmonary arteries (disorder)

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Congenital partial fusion of spine (disorder)

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Congenital malformation of ovaries and fallopian tubes (disorder)

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Congenital absence of pectoral muscle (disorder)

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Congenital deformity of hip joint (disorder)

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Congenital malformation of ear (disorder)

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Congenital malformation of the respiratory system (disorder)

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Congenital malformation of upper alimentary tract (disorder)

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Double kidney with double pelvis (disorder)

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Congenital bilateral aplasia of vas deferens (disorder)

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Transient tricuspid regurgitation of newborn (disorder)

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Congenital hyperplasia of sebaceous glands of lip (disorder)

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Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder)

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Pulmonary hypoplasia associated with short gestation (disorder)

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Vascular malformation of inner ear (disorder)

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Congenital deformity of ankle joint (disorder)

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Combined malformation of central nervous system and skeletal muscle (disorder)

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Congenital hypothyroidism with diffuse goiter (disorder)

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Transverse deficiency lower limb - knee level (disorder)

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Short rib dysplasia group (with or without polydactyly) (disorder)

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Transient mitral regurgitation of newborn (disorder)

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Congenital abnormality of nipple (disorder)

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Osteogenesis imperfecta, type IV B (disorder)

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Osteogenesis imperfecta, type IV A (disorder)

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Congenital stricture of common bile duct (disorder)

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Lumbarized first sacral vertebra (disorder)

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Sacralization of fifth lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital vascular anomaly of eye (disorder)

# compose.include[].concept[].display
Congenital hydrocephalus caused by toxoplasmosis (disorder)

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Congenital abnormality of external ear (disorder)

# compose.include[].concept[].display
Congenital abnormality of nose and nasopharynx (disorder)

# compose.include[].concept[].display
Congenital abnormality of oral cavity (disorder)

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Congenital abnormality of salivary duct (disorder)

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Dextrotransposition of the great arteries (disorder)

# compose.include[].concept[].display
Congenital anomaly of coronary artery (disorder)

# compose.include[].concept[].display
Congenital peripheral pulmonary artery stenosis (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection to coronary sinus (disorder)

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Total anomalous pulmonary venous connection to hepatic vein (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection to right atrium (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection to superior vena cava (disorder)

# compose.include[].concept[].display
Congenital insufficiency of aortic valve (disorder)

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Congenital duplication of colon (disorder)

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Congenital anomaly of nervous system of head/neck (disorder)

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Polycystic kidney disease, infantile type (disorder)

# compose.include[].concept[].display
Congenital bowing of tibia, fibula and femur (disorder)

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Venous anomaly of umbilical cord (disorder)

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Congenital absence of small intestine (disorder)

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Congenital atresia of ejaculatory duct (disorder)

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Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder)

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Longitudinal deficiency of tarsal bone (disorder)

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Congenital atresia of pharynx (disorder)

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Congenital adhesions of peritoneum (disorder)

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Congenital abnormality of ductus arteriosus (disorder)

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Congenital abnormality of vein (disorder)

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Congenital insufficiency of mitral valve (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage to coronary sinus (disorder)

# compose.include[].concept[].display
Congenital malrotation of intestine (disorder)

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Porokeratosis of Mibelli, superficial disseminated type (disorder)

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Congenital dilatation of esophagus (disorder)

# compose.include[].concept[].display
Congenital abnormality of iris and ciliary body (disorder)

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Hydrocephalus associated with congenital aqueduct stenosis (disorder)

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Abnormal number of pulmonary valve cusps (disorder)

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Absent blood vessel in umbilical cord (disorder)

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Accessory salivary gland or duct (disorder)

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Congenital fistula of rectum and anus (disorder)

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Embryonic cyst of fallopian tube (disorder)

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Transverse deficiency of hand (disorder)

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Transverse arrest metacarpal second to fifth rays (disorder)

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Congenital absence of multiple toes (disorder)

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Paratubal cyst arising in mesonephric duct (disorder)

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Congenital complete absence of right lower limb (disorder)

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Congenital subluxation of left hip (disorder)

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Congenital subluxation of right hip (disorder)

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Spina bifida of dorsal region (disorder)

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Ehlers-Danlos syndrome, type 3 (disorder)

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Congenital agenesis of brainstem nuclei (disorder)

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Aberrant retroesophageal subclavian artery causing dysphagia lusoria (disorder)

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Longitudinal deficiency of left femur (disorder)

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Longitudinal deficiency of left fibula (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia tarda type IIIa (disorder)

# compose.include[].concept[].display
Vascular anomaly of umbilical cord (disorder)

# compose.include[].concept[].display
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)

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Congenital anomaly of lower alimentary tract (disorder)

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Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder)

# compose.include[].concept[].display
Congenital deviation of ureter (disorder)

# compose.include[].concept[].display
Congenital anomaly of face bones (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage to hepatic veins (disorder)

# compose.include[].concept[].display
Spina bifida of cervical region (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of the thyroid gland (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of kidney (disorder)

# compose.include[].concept[].display
Genetic disorder of surfactant dysfunction (disorder)

# compose.include[].concept[].display
Microphthalmos associated with other anomalies of eye AND/OR adnexa (disorder)

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Congenital duplication of digestive organs (disorder)

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Congenital deformity of forehead (disorder)

# compose.include[].concept[].display
Congenital anomaly of lens shape (disorder)

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Cleft upper lip, upper jaw AND palate (disorder)

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Congenital anomaly of the hand (disorder)

# compose.include[].concept[].display
Congenital combined form cataract (disorder)

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Congenital duplication of vagina (disorder)

# compose.include[].concept[].display
Sialic acid storage disease, severe infantile type (disorder)

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Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)

# compose.include[].concept[].display
Congenital absence of bronchus (disorder)

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Congenital stenosis of choanae (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of penis (disorder)

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Cystic malformation of posterior fossa (disorder)

# compose.include[].concept[].display
Congenital duplication of appendix (disorder)

# compose.include[].concept[].display
Combined deficiency of sialidase AND beta galactosidase (disorder)

# compose.include[].concept[].display
Fibrous skin tumor of tuberous sclerosis (disorder)

# compose.include[].concept[].display
Aganglionosis of Auerbach's plexus (disorder)

# compose.include[].concept[].display
Congenital atresia of jejunum (disorder)

# compose.include[].concept[].display
Malrotation of the intestine type IIID (disorder)

# compose.include[].concept[].display
Congenital gingival granular cell tumor (disorder)

# compose.include[].concept[].display
Congenital absence of upper limb (disorder)

# compose.include[].concept[].display
Congenital anomaly of pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital small renal papilla (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of renal papilla (disorder)

# compose.include[].concept[].display
Congenital absence of pelvis and lower limb (disorder)

# compose.include[].concept[].display
Paravaginal cyst arising in mesonephric duct (disorder)

# compose.include[].concept[].display
Congenital arteriovenous fistula of kidney (disorder)

# compose.include[].concept[].display
Abnormal position of cardiac valve (disorder)

# compose.include[].concept[].display
Congenital subluxation of hip (disorder)

# compose.include[].concept[].display
Congenital stenosis of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital anomaly of abdomen (disorder)

# compose.include[].concept[].display
Congenital anomaly of body cavity (disorder)

# compose.include[].concept[].display
Congenital anomaly of body wall (disorder)

# compose.include[].concept[].display
Congenital anomaly of cardiovascular structure of trunk (disorder)

# compose.include[].concept[].display
Congenital anomaly of epidermal appendages (disorder)

# compose.include[].concept[].display
Congenital anomaly of lower trunk (disorder)

# compose.include[].concept[].display
Congenital anomaly of lymphatic structure of trunk (disorder)

# compose.include[].concept[].display
Congenital anomaly of musculoskeletal structure of trunk (disorder)

# compose.include[].concept[].display
Congenital anomaly of neural structure of trunk (disorder)

# compose.include[].concept[].display
Congenital anomaly of tympanic anulus (disorder)

# compose.include[].concept[].display
Congenital anomaly of upper trunk (disorder)

# compose.include[].concept[].display
Congenital absence of esophagus (disorder)

# compose.include[].concept[].display
Transposition of pulmonary veins (disorder)

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Polyostotic fibrous dysplasia of bone (disorder)

# compose.include[].concept[].display
Transverse deficiency of lower limb (disorder)

# compose.include[].concept[].display
Congenital duplication of cystic duct (disorder)

# compose.include[].concept[].display
Congenital notching of tip of nose (disorder)

# compose.include[].concept[].display
Albinism co-occurrent with hematologic disorder (disorder)

# compose.include[].concept[].display
Congenital malformation of bladder and urethra (disorder)

# compose.include[].concept[].display
Congenital prolapse of urinary meatus (disorder)

# compose.include[].concept[].display
Transverse deficiency of upper limb (disorder)

# compose.include[].concept[].display
Congenital anomaly of anterior chamber of eye (disorder)

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Congenital anomaly of endocrine ovary (disorder)

# compose.include[].concept[].display
Congenital absence of both testes (disorder)

# compose.include[].concept[].display
Congenital enlargement of coronary sinus (disorder)

# compose.include[].concept[].display
Congenital leg length discrepancy (disorder)

# compose.include[].concept[].display
Congenital anomaly of endocrine gonad (disorder)

# compose.include[].concept[].display
Congenital anomaly of endocrine testis (disorder)

# compose.include[].concept[].display
Bilateral congenital absence of feet (disorder)

# compose.include[].concept[].display
Congenital dislocation of elbow (disorder)

# compose.include[].concept[].display
Congenital absence of all toes (disorder)

# compose.include[].concept[].display
Congenital eventration of right crus of diaphragm (disorder)

# compose.include[].concept[].display
Congenital bony fusion of phalanges (disorder)

# compose.include[].concept[].display
Optic disc structural anomaly (disorder)

# compose.include[].concept[].display
Jervell and Lange-Nielsen syndrome (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage to right atrium (disorder)

# compose.include[].concept[].display
Congenital deformity of wall of nasal sinus (disorder)

# compose.include[].concept[].display
Congenital anomaly of the bladder (disorder)

# compose.include[].concept[].display
Congenital anomaly of integument (disorder)

# compose.include[].concept[].display
Persistent left posterior cardinal vein (disorder)

# compose.include[].concept[].display
Congenital duplication of intestine (disorder)

# compose.include[].concept[].display
Langer mesomelic dysplasia syndrome (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta type I (disorder)

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Osteogenesis imperfecta type III (disorder)

# compose.include[].concept[].display
Congenital absence of skeletal muscle (disorder)

# compose.include[].concept[].display
Congenital anomaly of the thymus (disorder)

# compose.include[].concept[].display
Congenital anomaly of appendix (disorder)

# compose.include[].concept[].display
Syndactyly of toes with fusion of bones (disorder)

# compose.include[].concept[].display
Thanatophoric dysplasia, type 1 (disorder)

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Thanatophoric dysplasia, type 2 (disorder)

# compose.include[].concept[].display
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)

# compose.include[].concept[].display
Spondyloepiphyseal dysplasia with joint laxity (disorder)

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Brachydactyly syndrome type B (disorder)

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Brachydactyly syndrome type C (disorder)

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Congenital absence of auricle with atresia of auditory canal (disorder)

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Osteodysplastic dysplasia, type I (disorder)

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Osteodysplastic dysplasia, type II (disorder)

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Mixed sclerosing bone dysplasia (disorder)

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Diaphyseal dysplasia with anemia (disorder)

# compose.include[].concept[].display
Diaphyseal medullary stenosis with bone malignancy (disorder)

# compose.include[].concept[].display
Lethal chondrodysplasia with fragmented bone (disorder)

# compose.include[].concept[].display
Cherubism with gingival fibromatosis (disorder)

# compose.include[].concept[].display
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)

# compose.include[].concept[].display
Congenital dysplasia of patella (disorder)

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Congenital anomaly of spinal meninges (disorder)

# compose.include[].concept[].display
Congenital stricture of rectum (disorder)

# compose.include[].concept[].display
Congenital malformation of thumb (disorder)

# compose.include[].concept[].display
Congenital atresia of vas deferens (disorder)

# compose.include[].concept[].display
Congenital depression in skull (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of inner granular layer of cerebellum (disorder)

# compose.include[].concept[].display
Epidermolysis bullosa simplex, Ogna type (disorder)

# compose.include[].concept[].display
Autosomal dominant epidermolysis bullosa simplex (disorder)

# compose.include[].concept[].display
Congenital absence of trachea (disorder)

# compose.include[].concept[].display
Congenital pigmented melanocytic nevus of skin (disorder)

# compose.include[].concept[].display
Chondrodysplasia punctata, X-linked dominant type (disorder)

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L - transposition of the great vessels (disorder)

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D - transposition of the great vessels (disorder)

# compose.include[].concept[].display
Tetralogy of Fallot with absent pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital absence of right pulmonary artery (disorder)

# compose.include[].concept[].display
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)

# compose.include[].concept[].display
Acrokeratosis verruciformis of Darier disease (disorder)

# compose.include[].concept[].display
Acrokeratosis verruciformis of Hopf (disorder)

# compose.include[].concept[].display
Lethal tight skin contracture syndrome (disorder)

# compose.include[].concept[].display
Junctional epidermolysis bullosa gravis of Herlitz (disorder)

# compose.include[].concept[].display
Congenital hyperplasia of intrahepatic bile duct (disorder)

# compose.include[].concept[].display
Congenital fibrosis of inferior rectus muscle (disorder)

# compose.include[].concept[].display
Spina bifida without hydrocephalus (disorder)

# compose.include[].concept[].display
Single vessel of umbilical cord (disorder)

# compose.include[].concept[].display
Developmental anomaly of vitelline duct (disorder)

# compose.include[].concept[].display
Congenital absence of coronary sinus (disorder)

# compose.include[].concept[].display
Congenital vascular malformation due to inherited syndrome (disorder)

# compose.include[].concept[].display
Congenital malformation of cutaneous lymphatics (disorder)

# compose.include[].concept[].display
Developmental malformation of branchial arch (disorder)

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Congenital onychodysplasia of index fingers (disorder)

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Fordyce spots of buccal mucosa (disorder)

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Congenital pigmented nevus with atypical melanocytic proliferation (disorder)

# compose.include[].concept[].display
Port-wine stain with associated anomalies (disorder)

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Port-wine stain with oculocutaneous melanosis (disorder)

# compose.include[].concept[].display
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)

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Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder)

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Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)

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Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder)

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Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder)

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Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)

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Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)

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Constricting band of extremity (disorder)

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Cutaneous lesion resulting from spinal dysraphism (disorder)

# compose.include[].concept[].display
Port-wine stain associated with spinal dysraphism (disorder)

# compose.include[].concept[].display
Cutaneous lesion resulting from spina bifida (disorder)

# compose.include[].concept[].display
Aplasia cutis in Trisomy 13 syndrome (disorder)

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Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)

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Aplasia cutis in Johanson-Blizzard syndrome (disorder)

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Port-wine stain in Rubinstein-Taybi syndrome (disorder)

# compose.include[].concept[].display
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)

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Cleft palate lateral synechia syndrome (disorder)

# compose.include[].concept[].display
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)

# compose.include[].concept[].display
Lamellar ichthyosis (limited type) (disorder)

# compose.include[].concept[].display
X-linked dominant chondrodysplasia punctata of Happle (disorder)

# compose.include[].concept[].display
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)

# compose.include[].concept[].display
Ichthyosis follicularis with alopecia and photophobia (disorder)

# compose.include[].concept[].display
Palmar pitting due to Darier's disease (disorder)

# compose.include[].concept[].display
Nail dystrophy due to Darier's disease (disorder)

# compose.include[].concept[].display
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)

# compose.include[].concept[].display
Autosomal dominant familial wooly hair (disorder)

# compose.include[].concept[].display
Autosomal recessive familial wooly hair (disorder)

# compose.include[].concept[].display
Pachyonychia congenita type II of Jackson-Lawler (disorder)

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Pachyonychia congenita type III of Schafer-Brunauer (disorder)

# compose.include[].concept[].display
Albinism-deafness syndrome of Tietz (disorder)

# compose.include[].concept[].display
Dystrophic epidermolysis bullosa inverse type (disorder)

# compose.include[].concept[].display
Localized congenital cutis laxa (disorder)

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Axillary freckling due to neurofibromatosis (disorder)

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Multiple café-au-lait macules due to neurofibromatosis (disorder)

# compose.include[].concept[].display
Café-au-lait macules with pulmonary stenosis (disorder)

# compose.include[].concept[].display
Café-au-lait macules with temporal dysrhythmia (disorder)

# compose.include[].concept[].display
Port-wine stain in proteus syndrome (disorder)

# compose.include[].concept[].display
Congenital atrial septal defect (disorder)

# compose.include[].concept[].display
Congenital anomaly of the hematopoietic system (disorder)

# compose.include[].concept[].display
Congenital anomaly of aortic arch AND/OR descending aorta (disorder)

# compose.include[].concept[].display
Congenital anomaly in number of teeth (disorder)

# compose.include[].concept[].display
Pre-eruptive color change of tooth (disorder)

# compose.include[].concept[].display
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)

# compose.include[].concept[].display
Ectopic gastric mucosa - multiple sites (disorder)

# compose.include[].concept[].display
Pancreas divisum - incomplete (disorder)

# compose.include[].concept[].display
11p partial monosomy syndrome (disorder)

# compose.include[].concept[].display
Congenital absence of heart structure (disorder)

# compose.include[].concept[].display
Congenital failure of fusion between maxillary and mandibular processes (disorder)

# compose.include[].concept[].display
Duane syndrome with vertical deviation (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with limb defect as major feature (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of sphenoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of upper respiratory system (disorder)

# compose.include[].concept[].display
Congenital anomaly of lacrimal gland (disorder)

# compose.include[].concept[].display
Congenital absence of lacrimal drainage structure (disorder)

# compose.include[].concept[].display
Congenital anomaly of endocrine gland (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of carpal bone (disorder)

# compose.include[].concept[].display
Congenital duplication of anus (disorder)

# compose.include[].concept[].display
Congenital abnormality of lacrimal drainage system (disorder)

# compose.include[].concept[].display
Congenital varus deformity of foot (disorder)

# compose.include[].concept[].display
Congenital absence of abdominal muscle (disorder)

# compose.include[].concept[].display
Partial absence of septum pellucidum (disorder)

# compose.include[].concept[].display
Dysgenesis of lacrimal punctum (disorder)

# compose.include[].concept[].display
Congenital plagiocephaly with pelvic obliquity (disorder)

# compose.include[].concept[].display
Congenital duplication of cecum (disorder)

# compose.include[].concept[].display
Dural carotid cavernous fistula (disorder)

# compose.include[].concept[].display
Myocardial bridge of coronary artery (disorder)

# compose.include[].concept[].display
Oto-palato-digital syndrome, type II (disorder)

# compose.include[].concept[].display
Spina bifida aperta of cervical spine (disorder)

# compose.include[].concept[].display
Congenital atresia of fallopian tube (disorder)

# compose.include[].concept[].display
Congenital anomaly of tracheal cartilage (disorder)

# compose.include[].concept[].display
Congenital arteriovenous malformation of small intestine (disorder)

# compose.include[].concept[].display
Spina bifida aperta of thoracic spine (disorder)

# compose.include[].concept[].display
Congenital lobulation of spleen (disorder)

# compose.include[].concept[].display
Congenital asymmetry of forehead (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of tibia (disorder)

# compose.include[].concept[].display
Congenital anomaly of male urogenital tract (disorder)

# compose.include[].concept[].display
Congenital vascular malformation of lip (disorder)

# compose.include[].concept[].display
Congenital female urogenital anomaly (disorder)

# compose.include[].concept[].display
Congenital flat back deformity (disorder)

# compose.include[].concept[].display
Partial duplication of ureter (disorder)

# compose.include[].concept[].display
Congenital vascular malformation of orbit (disorder)

# compose.include[].concept[].display
Congenital anomaly of anterior segment of eye (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of fovea centralis (disorder)

# compose.include[].concept[].display
Spina bifida aperta of lumbar spine (disorder)

# compose.include[].concept[].display
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 1 (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 1 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 2 (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 3 (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 4 (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 5 (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 2 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Congenital anomaly of peripheral blood vessel (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 3 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 1 measured by voiding cystourethrography (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 2 measured by voiding cystourethrography (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 3 measured by voiding cystourethrography (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 4 measured by voiding cystourethrography (disorder)

# compose.include[].concept[].display
Primary right vesicoureteral reflux grade 5 measured by voiding cystourethrography (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 1 (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 2 (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 3 (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 4 (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 5 (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 1 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 2 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 3 measured by radionuclide cystogram (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 1 measured by voiding urethrocystography (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 2 measured by voiding urethrocystography (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 3 measured by voiding urethrocystography (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 4 measured by voiding urethrocystography (disorder)

# compose.include[].concept[].display
Primary left vesicoureteral reflux grade 5 measured by voiding urethrocystography (disorder)

# compose.include[].concept[].display
Congenital atresia of osseous meatus of middle ear (disorder)

# compose.include[].concept[].display
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital malformation of sphenoid wing (disorder)

# compose.include[].concept[].display
Congenital anomaly of blood vessel of upper limb (disorder)

# compose.include[].concept[].display
Congenital anomaly of renal blood vessel (disorder)

# compose.include[].concept[].display
Congenital absence of quadriceps muscle (disorder)

# compose.include[].concept[].display
Congenital anomaly of inner ear (disorder)

# compose.include[].concept[].display
Congenital diverticulum of bronchus (disorder)

# compose.include[].concept[].display
Persistent urogenital sinus, high confluence (disorder)

# compose.include[].concept[].display
Persistent urogenital sinus, low confluence (disorder)

# compose.include[].concept[].display
Congenital obstructive megaureter without reflux (disorder)

# compose.include[].concept[].display
Submucous cleft of hard palate (disorder)

# compose.include[].concept[].display
Congenital stricture of external auditory canal (disorder)

# compose.include[].concept[].display
Congenital anomaly of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of aorta (disorder)

# compose.include[].concept[].display
Deformity of toe due to amniotic band (disorder)

# compose.include[].concept[].display
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder)

# compose.include[].concept[].display
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)

# compose.include[].concept[].display
Congenital deformity of scapula (disorder)

# compose.include[].concept[].display
Congenital anomaly of male genital system (disorder)

# compose.include[].concept[].display
Deformity of digit of hand due to amniotic band (disorder)

# compose.include[].concept[].display
Congenital coloboma of optic disc (disorder)

# compose.include[].concept[].display
Congenital absence of auricle with stenosis of auditory canal (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of ulna (disorder)

# compose.include[].concept[].display
Developmental anomaly of odontoid process of axis (disorder)

# compose.include[].concept[].display
Congenital deformity of pharynx (disorder)

# compose.include[].concept[].display
Congenital aplasia of odontoid process (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with common atrioventricular orifice (disorder)

# compose.include[].concept[].display
Lungs in mirror image arrangement (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with separate atrioventricular orifices (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder)

# compose.include[].concept[].display
Left superior caval vein persisting to coronary sinus (disorder)

# compose.include[].concept[].display
Congenital dilation of left pulmonary artery (disorder)

# compose.include[].concept[].display
Isolation of left common carotid artery (disorder)

# compose.include[].concept[].display
Congenital anomaly of the kidney (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)

# compose.include[].concept[].display
Congenital dilation of right pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital dilation of ascending aorta (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of right pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of left pulmonary artery (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder)

# compose.include[].concept[].display
Apex of heart anterior to cardiac base (disorder)

# compose.include[].concept[].display
Aortic orifice left side by side with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Common atrioventricular orifice in double inlet ventricle (disorder)

# compose.include[].concept[].display
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder)

# compose.include[].concept[].display
Aortic orifice anterior with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder)

# compose.include[].concept[].display
Spina bifida of sacral region (disorder)

# compose.include[].concept[].display
Split spinal cord malformation (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to diaphragm (disorder)

# compose.include[].concept[].display
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder)

# compose.include[].concept[].display
Isolation of right common carotid artery (disorder)

# compose.include[].concept[].display
Isolation of left subclavian artery (disorder)

# compose.include[].concept[].display
Isolation of right subclavian artery (disorder)

# compose.include[].concept[].display
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein (disorder)

# compose.include[].concept[].display
Aortic orifice posterior with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Apex of heart posterior to cardiac base (disorder)

# compose.include[].concept[].display
Left superior caval vein persisting to left sided atrium (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder)

# compose.include[].concept[].display
Congenital malformation of blood vessel of orbit proper (disorder)

# compose.include[].concept[].display
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder)

# compose.include[].concept[].display
Congenital asymmetry of tonsils (disorder)

# compose.include[].concept[].display
Aortic orifice posterior left with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Aortic orifice anterior right with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Aortic orifice anterior left with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Congenital anomaly of organ of Corti (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of umbilical artery (disorder)

# compose.include[].concept[].display
Premature restriction of foramen ovale (disorder)

# compose.include[].concept[].display
Mirror image bronchial anatomy (disorder)

# compose.include[].concept[].display
Criss-cross heart with rightward rotation (disorder)

# compose.include[].concept[].display
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder)

# compose.include[].concept[].display
Two atrioventricular valves in double inlet ventricle (disorder)

# compose.include[].concept[].display
Aortic orifice right side by side with respect to pulmonary orifice (disorder)

# compose.include[].concept[].display
Functionally congenital single lung (disorder)

# compose.include[].concept[].display
Persistent common pulmonary vein (disorder)

# compose.include[].concept[].display
Alveolar capillary dysplasia with pulmonary venous misalignment (disorder)

# compose.include[].concept[].display
Solitary ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Double outlet right ventricle with intact ventricular septum (disorder)

# compose.include[].concept[].display
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder)

# compose.include[].concept[].display
Criss-cross heart with leftward rotation (disorder)

# compose.include[].concept[].display
Diverticulum of coronary sinus (disorder)

# compose.include[].concept[].display
Pulmonary venous confluence remote from left atrium (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection of part of left lung (disorder)

# compose.include[].concept[].display
Interatrial communication through coronary sinus orifice (disorder)

# compose.include[].concept[].display
Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium (disorder)

# compose.include[].concept[].display
Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium (disorder)

# compose.include[].concept[].display
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder)

# compose.include[].concept[].display
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)

# compose.include[].concept[].display
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)

# compose.include[].concept[].display
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)

# compose.include[].concept[].display
Right ventricle to left of left ventricle (disorder)

# compose.include[].concept[].display
Continuity between mitral valve and pulmonary valve (disorder)

# compose.include[].concept[].display
Discontinuity between mitral valve and pulmonary valve (disorder)

# compose.include[].concept[].display
Pulmonary venous confluence in direct proximity to left atrium (disorder)

# compose.include[].concept[].display
Unicommissural unicuspid aortic valve (disorder)

# compose.include[].concept[].display
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)

# compose.include[].concept[].display
Distal aortopulmonary window with minimal superior rim (disorder)

# compose.include[].concept[].display
Intermediate aortopulmonary window with adequate superior and inferior rim (disorder)

# compose.include[].concept[].display
Confluent aortopulmonary window with minimal superior and inferior rim (disorder)

# compose.include[].concept[].display
Double aortic arch with left arch dominant and coarctation of right arch (disorder)

# compose.include[].concept[].display
Persisting fifth aortic arch with double barrell arch (disorder)

# compose.include[].concept[].display
Proximal aortopulmonary window with minimal inferior rim (disorder)

# compose.include[].concept[].display
Congenital midvalvar ring of mitral leaflet (disorder)

# compose.include[].concept[].display
Restrictive interatrial communication with obligatory shunt (disorder)

# compose.include[].concept[].display
Congenital stenosis of trachea due to complete rings (disorder)

# compose.include[].concept[].display
Congenital stenosis of trachea due to tracheal web (disorder)

# compose.include[].concept[].display
Left superior vena cava persisting to right atrium and left atrium (disorder)

# compose.include[].concept[].display
Pulmonary venous confluence in horizontal orientation (disorder)

# compose.include[].concept[].display
Pulmonary venous confluence in vertical orientation (disorder)

# compose.include[].concept[].display
Congenital prolapse of aortic valve (disorder)

# compose.include[].concept[].display
Congenital abnormality of hepatic vein (disorder)

# compose.include[].concept[].display
Congenital abnormality of left atrium (disorder)

# compose.include[].concept[].display
Congenital abnormality of middle cardiac vein (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection of entire right lung (disorder)

# compose.include[].concept[].display
Congenital abnormality of tricuspid chordae tendinae (disorder)

# compose.include[].concept[].display
Congenital abnormality of tricuspid leaflet (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection of supracardiac type (disorder)

# compose.include[].concept[].display
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)

# compose.include[].concept[].display
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)

# compose.include[].concept[].display
Right ventricle posterior to left ventricle (disorder)

# compose.include[].concept[].display
Double aortic arch with right arch dominant and atresia of left arch (disorder)

# compose.include[].concept[].display
Double aortic arch with right arch dominant and coarctation of left arch (disorder)

# compose.include[].concept[].display
Congenital tracheoesophageal fistula with esophageal stenosis (disorder)

# compose.include[].concept[].display
Ventricular septal defect of inlet of right aspect of ventricular septum (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection of part of right lung (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence (disorder)

# compose.include[].concept[].display
Congenital abnormality of atrial septum (disorder)

# compose.include[].concept[].display
Congenital aneurysm of subaortic left ventricle (disorder)

# compose.include[].concept[].display
Aortopulmonary window with tubular connection (disorder)

# compose.include[].concept[].display
Atresia of left superior vena cava (disorder)

# compose.include[].concept[].display
Coarctation of right pulmonary artery (disorder)

# compose.include[].concept[].display
Completely unroofed coronary sinus defect in left atrium (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection of intracardiac type (disorder)

# compose.include[].concept[].display
Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections (disorder)

# compose.include[].concept[].display
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder)

# compose.include[].concept[].display
Double aortic arch with balanced arches (disorder)

# compose.include[].concept[].display
Double aortic arch with left arch dominant (disorder)

# compose.include[].concept[].display
Double aortic arch with right arch dominant (disorder)

# compose.include[].concept[].display
Congenital abnormality of aortic valve cusp (disorder)

# compose.include[].concept[].display
Congenital abnormality of cardiac vein (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection of entire left lung (disorder)

# compose.include[].concept[].display
Residual ventricular septal defect (disorder)

# compose.include[].concept[].display
Divided left atrium with restrictive outlet of proximal chamber to left atrium (disorder)

# compose.include[].concept[].display
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder)

# compose.include[].concept[].display
Double aortic arch with left arch dominant and atresia of right arch (disorder)

# compose.include[].concept[].display
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder)

# compose.include[].concept[].display
Vascular ring with retrotracheal right pulmonary artery from ascending aorta (disorder)

# compose.include[].concept[].display
Single ventricular outlet above right ventricle (disorder)

# compose.include[].concept[].display
Single ventricular outlet above left ventricle (disorder)

# compose.include[].concept[].display
Right superior vena cava connecting to left atrium and right atrium (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect associated with tetralogy of Fallot (disorder)

# compose.include[].concept[].display
Congenital left ventricular submitral valve aneurysm (disorder)

# compose.include[].concept[].display
Pulmonary trunk absent with absent left pulmonary artery (disorder)

# compose.include[].concept[].display
Pulmonary trunk absent with absent right pulmonary artery (disorder)

# compose.include[].concept[].display
Ventricular septal defect with malaligned outlet septum (disorder)

# compose.include[].concept[].display
Congenital abnormality of posterior cardiac vein of left ventricle (disorder)

# compose.include[].concept[].display
Congenital abnormality of right atrium (disorder)

# compose.include[].concept[].display
Congenital abnormality of systemic vein (disorder)

# compose.include[].concept[].display
Divided left atrium with nonrestrictive outlet of proximal chamber to left atrium (disorder)

# compose.include[].concept[].display
Single inlet ventricle with absent atrioventricular connection (disorder)

# compose.include[].concept[].display
Congenital abnormality of tricuspid papillary muscle (disorder)

# compose.include[].concept[].display
Ebstein's anomaly with functional tricuspid stenosis (disorder)

# compose.include[].concept[].display
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder)

# compose.include[].concept[].display
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder)

# compose.include[].concept[].display
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder)

# compose.include[].concept[].display
Single ventricular outlet above ventricle of indeterminate morphology (disorder)

# compose.include[].concept[].display
Hepatic vein to coronary sinus (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to prolapsed arterial valve (disorder)

# compose.include[].concept[].display
Acommissural unicuspid aortic valve (disorder)

# compose.include[].concept[].display
Atresia of pulmonary trunk with absent left pulmonary artery (disorder)

# compose.include[].concept[].display
Atresia of pulmonary trunk with absent right pulmonary artery (disorder)

# compose.include[].concept[].display
Vascular ring due to aberrant subclavian artery and bilateral arterial ducts (disorder)

# compose.include[].concept[].display
Aortic left ventricular tunnel with right coronary artery from tunnel (disorder)

# compose.include[].concept[].display
Aberrant origin of left subclavian artery (disorder)

# compose.include[].concept[].display
Abnormal course of aortic arch (disorder)

# compose.include[].concept[].display
Right ventricle inferior to left ventricle (disorder)

# compose.include[].concept[].display
Anomalous origin of pulmonary artery from patent arterial duct (disorder)

# compose.include[].concept[].display
Right superior vena cava connecting to coronary sinus (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder)

# compose.include[].concept[].display
Common arterial trunk with crossed over pulmonary arteries (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal right subclavian artery (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder)

# compose.include[].concept[].display
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)

# compose.include[].concept[].display
Aortic valve overriding ventricular septum (disorder)

# compose.include[].concept[].display
Anomalous coronary venous return (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder)

# compose.include[].concept[].display
Midline posterior apex of heart (disorder)

# compose.include[].concept[].display
Coronary sinus drainage cephalad to left superior vena cava (disorder)

# compose.include[].concept[].display
Malalignment of aortic sinus in relation to pulmonary sinus (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch to right descending aorta and right arterial ligament (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder)

# compose.include[].concept[].display
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to common atrioventricular valve (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to fibromuscular shelf (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to malaligned outlet septum (disorder)

# compose.include[].concept[].display
Divided left atrium with some pulmonary veins to proximal chamber (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with restrictive ventricular component (disorder)

# compose.include[].concept[].display
Left superior vena cava persisting to right sided atrium (disorder)

# compose.include[].concept[].display
Coronary sinus drainage cephalad to right superior vena cava (disorder)

# compose.include[].concept[].display
Midline anterior apex of heart (disorder)

# compose.include[].concept[].display
Tracheal origin of right upper lobe bronchus (disorder)

# compose.include[].concept[].display
Subaortic stenosis due to common atrioventricular valve (disorder)

# compose.include[].concept[].display
Congenital abnormality of ascending aorta (disorder)

# compose.include[].concept[].display
Congenital abnormality of pulmonary trunk (disorder)

# compose.include[].concept[].display
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder)

# compose.include[].concept[].display
Superior to inferior ventricular relationship (disorder)

# compose.include[].concept[].display
Systemic to pulmonary collateral artery from coronary artery (disorder)

# compose.include[].concept[].display
Ductus arteriosus from brachiocephalic artery (disorder)

# compose.include[].concept[].display
Ductus arteriosus from left subclavian artery (disorder)

# compose.include[].concept[].display
Anomalous pulmonary to systemic collateral vein (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous connection of mixed type (disorder)

# compose.include[].concept[].display
Congenital deformity of mitral valve annulus (disorder)

# compose.include[].concept[].display
Infracardiac location of anomalous pulmonary venous connection (disorder)

# compose.include[].concept[].display
Intracardiac location of anomalous pulmonary venous connection (disorder)

# compose.include[].concept[].display
Interrupted left inferior vena cava (disorder)

# compose.include[].concept[].display
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder)

# compose.include[].concept[].display
Muscular subvalvar atresia of aorta (disorder)

# compose.include[].concept[].display
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connection of infracardiac type (disorder)

# compose.include[].concept[].display
Congenital abnormality of pulmonary valve cusp (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder)

# compose.include[].concept[].display
Single ventricular outlet above both ventricles (disorder)

# compose.include[].concept[].display
Inferior vena cava anterior and same side as descending aorta (disorder)

# compose.include[].concept[].display
Anterior deviation of infundibular septum of Fallot type (disorder)

# compose.include[].concept[].display
Azygos continuation of inferior vena cava to right superior vena cava (disorder)

# compose.include[].concept[].display
Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder)

# compose.include[].concept[].display
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right arterial ligament (disorder)

# compose.include[].concept[].display
Vascular ring with left aortic arch and right patent arterial duct (disorder)

# compose.include[].concept[].display
Left inferior vena cava connecting to left atrium and right atrium (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to atrioventricular valve (disorder)

# compose.include[].concept[].display
Coarctation of left pulmonary artery (disorder)

# compose.include[].concept[].display
Aortic arch hypoplasia between subclavian and common carotid arteries (disorder)

# compose.include[].concept[].display
Aortic arch hypoplasia distal to subclavian artery (disorder)

# compose.include[].concept[].display
Bilateral bilobed lungs due to isomerism of left lung (disorder)

# compose.include[].concept[].display
Bilateral trilobed lungs due to isomerism of right lung (disorder)

# compose.include[].concept[].display
Abnormal course of aortic arch and descending aorta (disorder)

# compose.include[].concept[].display
Parallel course of aorta and pulmonary artery (disorder)

# compose.include[].concept[].display
Total anomalous pulmonary venous connections of mixed type (disorder)

# compose.include[].concept[].display
Supracardiac location of anomalous pulmonary venous connection (disorder)

# compose.include[].concept[].display
Common atrioventricular valve in functionally univentricular heart (disorder)

# compose.include[].concept[].display
Common arterial trunk with pulmonary origin from truncal valve sinus (disorder)

# compose.include[].concept[].display
Obstruction of right ventricular outflow tract due to aortico-left ventricular tunnel (disorder)

# compose.include[].concept[].display
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder)

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Interrupted right inferior vena cava (disorder)

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Anterior-posterior orientation of bicuspid aortic valve (disorder)

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Double outlet right ventricle with subpulmonary ventricular septal defect (disorder)

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Common arterial trunk with obstruction of aortic arch (disorder)

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Right-left orientation of bicuspid aortic valve (disorder)

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Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder)

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Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder)

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Aortico-left ventricular tunnel of simple type (disorder)

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Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder)

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Multiple mitral papillary muscles with hammock valve (disorder)

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Subarterial ventricular septal defect (disorder)

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Common arterial trunk with isolated pulmonary artery (disorder)

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Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder)

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Congenital abnormality of mitral subvalvular apparatus (disorder)

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Hypoplasia of infundibular septum (disorder)

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Anterior-posterior orientation of bicuspid pulmonary valve (disorder)

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Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder)

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Inferior vena cava connecting to right atrium and left atrium (disorder)

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Hypoplasia of trabecular portion of right ventricle (disorder)

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Persisting fifth aortic arch with atresia of fourth arch (disorder)

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Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder)

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Absence of mitral chordae tendinae (disorder)

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Hepatic vein to left sided atrium (disorder)

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Hepatic vein to right sided atrium (disorder)

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Hepatic vein to left atrium and right atrium (disorder)

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Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder)

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Distal origin of brachiocephalic artery with tracheal compression (disorder)

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Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder)

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Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder)

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Pulmonary artery connecting to coronary artery via collateral artery (disorder)

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Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder)

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Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder)

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Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder)

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Congenital billowing of mitral valve leaflet (disorder)

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Left ventricular outflow tract obstruction due to prolapsed arterial valve (disorder)

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Eccentric opening of tricuspid aortic valve (disorder)

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Eccentric opening of tricuspid pulmonary valve (disorder)

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Absence of pulmonary valve cusp (disorder)

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Right ventricular outflow tract obstruction due to septal hypertrophy (disorder)

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Commissural fusion of truncal valve (disorder)

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Right-left orientation of bicuspid pulmonary valve (disorder)

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Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder)

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Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder)

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Left superior vena cava persisting to coronary sinus and then to right sided atrium (disorder)

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Muscular ventricular septal defect in trabecular septum (disorder)

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Aortic arch hypoplasia between carotid arteries (disorder)

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Hypoplasia of mitral valve annulus (disorder)

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Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder)

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Congenital abnormality of right atrioventricular valve in double inlet ventricle (disorder)

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Pulmonary artery with absent proximal arterial connection (disorder)

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Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands (disorder)

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Hypoplasia of trabecular portion of left ventricle (disorder)

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Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder)

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Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder)

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Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder)

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Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder)

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Confluent muscular ventricular septal defect (disorder)

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Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder)

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Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder)

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Left sided azygos continuation of inferior vena cava to left superior vena cava (disorder)

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Double aortic arch with right arch dominant and left arch patent (disorder)

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Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium (disorder)

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Double aortic arch with left arch dominant and right arch patent (disorder)

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Supracardiac location of anomalous pulmonary venous connection to left superior vena cava (disorder)

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Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium (disorder)

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Absent ductus venosus with direct connection of umbilical vein to right atrium (disorder)

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Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with extracardiac pulmonary venous chamber communication (disorder)

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Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with pulmonary venous chamber communication to right atrium (disorder)

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Congenital abnormality of great cardiac vein (disorder)

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Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein (disorder)

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Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder)

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Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries (disorder)

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Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein (disorder)

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Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder)

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Abnormal attachment of tricuspid chordae tendinae (disorder)

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Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder)

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Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder)

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Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder)

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Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder)

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Malattachment of atrial septum (disorder)

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Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder)

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Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder)

# compose.include[].concept[].display
Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication to right atrium (disorder)

# compose.include[].concept[].display
Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein (disorder)

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Supracardiac location of anomalous pulmonary venous connection to right superior vena cava (disorder)

# compose.include[].concept[].display
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of ureteric valve (disorder)

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Anomalous pulmonary venous connection of mixed type with one pulmonary venous confluence (disorder)

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Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria (disorder)

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Separate hepatic vein and inferior vena cava connections to heart (disorder)

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Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous connection of mixed type with two pulmonary venous confluences (disorder)

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Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder)

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Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder)

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Congenital abnormality of anterior cardiac vein (disorder)

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Supracardiac location of anomalous pulmonary venous connection to azygos vein (disorder)

# compose.include[].concept[].display
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder)

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Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder)

# compose.include[].concept[].display
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder)

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Right pulmonary artery with absent proximal arterial connection (disorder)

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Absence of primary mitral chordae tendinae (disorder)

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Left pulmonary artery with absent proximal arterial connection (disorder)

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Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber extracardiac communication (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting directly to left atrium (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting anomalously (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously (disorder)

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Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting directly to left atrium (disorder)

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Malattachment of atrial septum with posterior aspect of septum primum to left (disorder)

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Malattachment of atrial septum with superior aspect of septum primum to left and posterior (disorder)

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Congenital absence of part of upper limb (disorder)

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Congenital absence of part of upper arm (disorder)

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Congenital shortening of upper arm (disorder)

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Crowding of posterior maxillary teeth (disorder)

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Crowding of anterior mandibular teeth (disorder)

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Crowding of posterior mandibular teeth (disorder)

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Crowding of anterior maxillary teeth (disorder)

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Congenital anomaly of blood vessel of limb (disorder)

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Congenital anomaly of blood vessel of lower limb (disorder)

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Anomalous origin of right coronary artery from pulmonary artery (disorder)

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Anomalous origin of left coronary artery from pulmonary artery (disorder)

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Anomalous origin of left anterior descending coronary artery from pulmonary artery (disorder)

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Coarctation of suprarenal abdominal aorta (disorder)

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Coarctation of infrarenal abdominal aorta (disorder)

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Major systemic to pulmonary collateral artery supplying both lungs (disorder)

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Major systemic to pulmonary collateral artery supplying entire right lung (disorder)

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Major systemic to pulmonary collateral artery supplying entire left lung (disorder)

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Major systemic to pulmonary collateral artery supplying part of right lung (disorder)

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Major systemic to pulmonary collateral artery supplying part of left lung (disorder)

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Major systemic to pulmonary collateral artery supplying unknown zone of distribution (disorder)

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Coarctation of aorta between subclavian artery and common carotid artery (disorder)

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Coarctation of aorta between left common carotid artery and right common carotid artery (disorder)

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Vascular ring with right aortic arch and left patent ductus arteriosus (disorder)

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Vascular ring with right aortic arch and left ligamentum arteriosum (disorder)

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Congenital absence of soft tissue of distal phalanx of finger (disorder)

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Polydactyly of toes of bilateral feet (disorder)

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Congenital dilatation of aorta (disorder)

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Partial aphalangia of upper limb (disorder)

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Congenital stenosis of superior vena cava (disorder)

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Anomalous origin of left circumflex coronary artery from pulmonary artery (disorder)

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Thoracopagus with separate hearts and pericardial sacs (disorder)

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Thoracopagus with separate hearts and common pericardial sac (disorder)

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Thoracopagus with conjoined atria (disorder)

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Thoracopagus with conjoined atria and ventricles (disorder)

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Major systemic to pulmonary collateral artery (disorder)

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Malrotation of intestine with midgut volvulus (disorder)

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Malrotation of intestine with internal herniation (disorder)

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Fatal congenital nonlysosomal heart glycogenosis (disorder)

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Congenital atresia of left main stem coronary artery (disorder)

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Anomalous origin of accessory coronary artery from pulmonary artery (disorder)

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Systemic to pulmonary collateral artery from descending thoracic aorta (disorder)

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Systemic to pulmonary collateral artery from abdominal aorta (disorder)

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Congenital shortening of tendon (disorder)

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Systemic to pulmonary collateral artery from right carotid artery (disorder)

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Systemic to pulmonary collateral artery from left carotid artery (disorder)

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Systemic to pulmonary collateral artery from right renal artery (disorder)

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Systemic to pulmonary collateral artery connecting with artery (disorder)

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Systemic to pulmonary collateral artery from left renal artery (disorder)

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Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder)

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Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder)

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Anomalous origin of dual left anterior descending coronary arteries from right coronary artery and left coronary artery (disorder)

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Anomalous origin of large conus artery from right coronary artery (disorder)

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Anomalous origin of conus artery from separate aortic sinus orifice (disorder)

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Anomalous origin of coronary arteries from anterior aortic sinus (disorder)

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Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve (disorder)

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Anomalous origin of right coronary artery from left anterior descending coronary artery (disorder)

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Anomalous origin of right coronary artery from left circumflex coronary artery (disorder)

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Anomalous origin of left coronary artery from right coronary artery (disorder)

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Congenital atresia of right coronary artery orifice (disorder)

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Anomalous origin of accessory coronary artery from aortic sinus (disorder)

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Anomalous origin of left coronary artery and right coronary artery from pulmonary artery (disorder)

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Anomalous origin of sinus node coronary artery from separate aortic sinus orifice (disorder)

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Anomalous course of coronary artery posterior to pulmonary trunk (disorder)

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Anomalous course of coronary artery posterior to aorta (disorder)

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Anomalous origin of right coronary artery from left coronary artery (disorder)

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Anomalous origin of single coronary artery from left coronary artery aortic sinus (disorder)

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Anomalous origin of left circumflex coronary artery from right coronary aortic sinus (disorder)

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Vascular ring with right aortic arch and left ligamentum arteriosum between left subclavian artery and left common carotid artery (disorder)

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Vascular ring with right aortic arch and left ligamentum arteriosum with anomalous retroesophageal left subclavian artery (disorder)

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Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal left subclavian artery (disorder)

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Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta and anomalous left subclavian artery (disorder)

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Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal brachiocephalic artery (disorder)

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Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta (disorder)

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Systemic to pulmonary collateral artery connecting with central pulmonary arteries (disorder)

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Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder)

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Systemic to pulmonary collateral artery connecting with tracheobronchial arteries (disorder)

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Anomalous origin of ductus arteriosus from right carotid artery (disorder)

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Anomalous origin of ductus arteriosus from left carotid artery (disorder)

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Anomalous origin of ductus arteriosus from ascending aorta (disorder)

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Anomalous origin of ductus arteriosus from aortic arch (disorder)

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Anomalous origin of ductus arteriosus from left brachiocephalic artery (disorder)

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Anomalous insertion of ductus arteriosus (disorder)

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Anomalous insertion of ductus arteriosus into pulmonary trunk (disorder)

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Anomalous insertion of ductus arteriosus into right pulmonary artery (disorder)

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Arteriovenous fistula of great cerebral vein of Galen (disorder)

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Anomalous common origin of brachiocephalic artery and left common carotid artery (disorder)

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Anomalous origin of left common carotid artery from brachiocephalic artery (disorder)

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Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum (disorder)

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Systemic to coronary collateral artery (disorder)

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Anomalous origin of right coronary artery from left coronary artery aortic sinus (disorder)

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Anomalous origin of left coronary artery from right coronary aortic sinus (disorder)

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Anomalous origin of single coronary artery from right coronary artery aortic sinus (disorder)

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Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus (disorder)

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Parasitic twin of asymmetrical conjoined twins (disorder)

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Patent right ductus arteriosus (disorder)

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Bilateral ductus arteriosus with patent left ductus arteriosus and closed right ductus arteriosus (disorder)

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Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus (disorder)

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Bilateral patent ductus arteriosus (disorder)

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Bilateral closed ductus arteriosus (disorder)

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Anomalous origin of ductus arteriosus from distal descending aorta (disorder)

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Anomalous insertion of ductus arteriosus into distal left pulmonary artery (disorder)

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Anomalous origin of ductus arteriosus from right subclavian artery (disorder)

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Interruption of coronary artery (disorder)

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Anomalous origin of coronary artery from aorta (disorder)

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Single coronary artery dividing into right coronary artery and left coronary artery (disorder)

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Anomalous course of coronary artery anterior to pulmonary trunk and aorta (disorder)

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Anomalous course of coronary artery posterior to pulmonary trunk and aorta (disorder)

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Anomalous course of coronary artery anterior to aorta (disorder)

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Anomalous course of coronary artery anterior to pulmonary trunk (disorder)

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Anomalous separate origins of internal carotid arteries and external carotid arteries from single aortic arch (disorder)

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Malposition of coronary artery orifice (disorder)

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Coronary artery orifice abnormally low (disorder)

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Common coronary artery orifice (disorder)

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Congenital hypoplasia of descending aorta (disorder)

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Congenital hypoplasia of abdominal aorta (disorder)

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Congenital hypoplasia of thoracoabdominal aorta (disorder)

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Anomalous intramural course of proximal portion of coronary artery within aortic sinus (disorder)

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Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve (disorder)

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Anomalous intramural course of proximal portion of coronary artery above aortic sinus (disorder)

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Anomalous course of coronary artery across right ventricular outflow tract (disorder)

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Anomalous course of coronary artery through infundibular septum (disorder)

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Patent ductus arteriosus with normal origin and insertion (disorder)

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Anomalous origin of left ductus arteriosus from right aortic arch (disorder)

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Anomalous origin of right ductus arteriosus from right aortic arch (disorder)

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Anomalous origin of ductus arteriosus from aortic diverticulum (disorder)

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Anomalous insertion of ductus arteriosus into unknown site (disorder)

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Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta (disorder)

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Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta (disorder)

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Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder)

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Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation (disorder)

# compose.include[].concept[].display
Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus (disorder)

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Anomalous origin of dual left anterior descending coronary arteries (disorder)

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Double barrel dual coronary artery orifices within aortic sinus (disorder)

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Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus (disorder)

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Congenital abnormality of systemic artery (disorder)

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Congenital atresia of aortic arch (disorder)

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Atresia of aortic arch with fibrous cord (disorder)

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Atresia of aortic arch with fibrous cord distal to subclavian artery (disorder)

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Atresia of aortic arch with fibrous cord between subclavian artery and common carotid artery (disorder)

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Atresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery (disorder)

# compose.include[].concept[].display
Congenital luminal atresia of aortic arch distal to subclavian artery (disorder)

# compose.include[].concept[].display
Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery (disorder)

# compose.include[].concept[].display
Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery (disorder)

# compose.include[].concept[].display
Right aortic arch branching pattern (disorder)

# compose.include[].concept[].display
Congenital anomaly of pleural folds (disorder)

# compose.include[].concept[].display
Severe x-linked myotubular myopathy (disorder)

# compose.include[].concept[].display
Developmental displacement of brachial plexus (disorder)

# compose.include[].concept[].display
Congenital duplication of gallbladder (disorder)

# compose.include[].concept[].display
Progression of fetal right ventricular outflow tract obstruction (disorder)

# compose.include[].concept[].display
Progression of fetal left ventricular outflow tract obstruction (disorder)

# compose.include[].concept[].display
Congenital anomaly of bile ducts (disorder)

# compose.include[].concept[].display
Systemic to pulmonary collateral artery contributing to dual lung supply (disorder)

# compose.include[].concept[].display
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder)

# compose.include[].concept[].display
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder)

# compose.include[].concept[].display
Recurrent ventricular component of atrioventricular septal defect after prior cardiovascular surgical procedure (disorder)

# compose.include[].concept[].display
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Long tubular intestinal duplication (disorder)

# compose.include[].concept[].display
Interruption of aortic arch distal to subclavian artery (disorder)

# compose.include[].concept[].display
Interruption of aortic arch between subclavian artery and common carotid artery (disorder)

# compose.include[].concept[].display
Interruption of aortic arch between left common carotid artery and right common carotid artery (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to neoplasm (disorder)

# compose.include[].concept[].display
Right ventricular outflow tract obstruction due to foreign body (disorder)

# compose.include[].concept[].display
Left ventricular outflow tract obstruction due to neoplasm (disorder)

# compose.include[].concept[].display
Congenital abnormality of supraaortic branch of thoracic aorta (disorder)

# compose.include[].concept[].display
Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart (disorder)

# compose.include[].concept[].display
Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart (disorder)

# compose.include[].concept[].display
Ventricular septal defect due to and following infective endocarditis (disorder)

# compose.include[].concept[].display
Abnormal ventriculoarterial connection with usual origin of left coronary artery from aortic sinus to right of nonfacing aortic sinus and usual origin of right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)

# compose.include[].concept[].display
Congenital occlusion of coronary sinus (disorder)

# compose.include[].concept[].display
Congenital occlusion of iliac vein (disorder)

# compose.include[].concept[].display
Congenital occlusion of femoral vein (disorder)

# compose.include[].concept[].display
Anomalous origin of right coronary artery (disorder)

# compose.include[].concept[].display
Anomalous origin of left coronary artery (disorder)

# compose.include[].concept[].display
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)

# compose.include[].concept[].display
Congenital anomaly of the pelvis (disorder)

# compose.include[].concept[].display
Incomplete bilateral cleft palate (disorder)

# compose.include[].concept[].display
Congenital absence of humerus (disorder)

# compose.include[].concept[].display
Congenital absence of muscle AND/OR tendon (disorder)

# compose.include[].concept[].display
Congenital calculus of kidney (disorder)

# compose.include[].concept[].display
Congenital dislocation of hip (disorder)

# compose.include[].concept[].display
Congenital stricture of urinary meatus (disorder)

# compose.include[].concept[].display
Congenital atresia of cardiac vein (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with early overgrowth (disorder)

# compose.include[].concept[].display
Congenital hernia of foramen of Morgagni (disorder)

# compose.include[].concept[].display
Congenital anomaly of gallbladder (disorder)

# compose.include[].concept[].display
Congenital enlargement of nasopharynx (disorder)

# compose.include[].concept[].display
Congenital stenosis of aqueduct of Sylvius (disorder)

# compose.include[].concept[].display
Congenital atresia of bronchus (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, type 8 (disorder)

# compose.include[].concept[].display
Congenital anomaly of bronchus (disorder)

# compose.include[].concept[].display
Congenital fistula of urachus (disorder)

# compose.include[].concept[].display
Congenital constriction of pylorus (disorder)

# compose.include[].concept[].display
Congenital atresia of duodenum (disorder)

# compose.include[].concept[].display
Congenital melanosis of sclera (disorder)

# compose.include[].concept[].display
Asymmetric crying face association (disorder)

# compose.include[].concept[].display
Congenital atresia of aortic valve (disorder)

# compose.include[].concept[].display
Congenital absence of all fingers (disorder)

# compose.include[].concept[].display
Congenital absence of prostate (disorder)

# compose.include[].concept[].display
Congenital malposition of cardiac apex (disorder)

# compose.include[].concept[].display
Infantile lobar overinflation of lung (disorder)

# compose.include[].concept[].display
Congenital absence of coronary artery (disorder)

# compose.include[].concept[].display
Steroid 21-monooxygenase deficiency, simple virilizing type (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of femur (disorder)

# compose.include[].concept[].display
Congenital absence of vas deferens (disorder)

# compose.include[].concept[].display
Congenital atresia of glottis (disorder)

# compose.include[].concept[].display
Congenital atresia of trachea (disorder)

# compose.include[].concept[].display
Vascular compression of esophagus by aberrant artery (disorder)

# compose.include[].concept[].display
Spina bifida with hydrocephalus (disorder)

# compose.include[].concept[].display
Peutz-Jeghers polyps of small bowel (disorder)

# compose.include[].concept[].display
Congenital anomaly of renal pelvis (disorder)

# compose.include[].concept[].display
Oto-palato-digital syndrome, type I (disorder)

# compose.include[].concept[].display
Congenital aneurysm of sinus of Valsalva (disorder)

# compose.include[].concept[].display
Congenital cyst of canal of Nuck (disorder)

# compose.include[].concept[].display
Congenital anomaly of cerebral artery (disorder)

# compose.include[].concept[].display
Congenital corneal opacity not interfering with vision (disorder)

# compose.include[].concept[].display
Congenital fusion of ossicles of ear (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of pylorus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of pulmonary artery (disorder)

# compose.include[].concept[].display
Ectopic gray matter in centrum ovale (disorder)

# compose.include[].concept[].display
Congenital anomaly of orbit proper (disorder)

# compose.include[].concept[].display
Congenital anomaly of small intestine (disorder)

# compose.include[].concept[].display
Congenital pseudoarthrosis of tibia (disorder)

# compose.include[].concept[].display
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta (disorder)

# compose.include[].concept[].display
Congenital malposition of kidney (disorder)

# compose.include[].concept[].display
Anomalous origin of left circumflex artery from right coronary artery (disorder)

# compose.include[].concept[].display
Congenital diverticulum of trachea (disorder)

# compose.include[].concept[].display
Hay-Wells syndrome of ectodermal dysplasia (disorder)

# compose.include[].concept[].display
Congenital hyperplasia of kidney (disorder)

# compose.include[].concept[].display
Congenital duplication of biliary duct (disorder)

# compose.include[].concept[].display
Pseudohypoparathyroidism type I B (disorder)

# compose.include[].concept[].display
Congenital subaortic stenosis of tunnel type (disorder)

# compose.include[].concept[].display
Congenital anomaly of subcutaneous tissue (disorder)

# compose.include[].concept[].display
Congenital absence of external ear (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome due to non-infectious environmental agents (disorder)

# compose.include[].concept[].display
Congenital adhesions of omentum (disorder)

# compose.include[].concept[].display
Congenital absence of tibia AND fibula (disorder)

# compose.include[].concept[].display
Congenital duplication of cervix (disorder)

# compose.include[].concept[].display
Accessory lacrimal gland disorder (disorder)

# compose.include[].concept[].display
Pseudohypoparathyroidism type I A (disorder)

# compose.include[].concept[].display
Congenital anomaly of female genital system (disorder)

# compose.include[].concept[].display
Congenital dislocation of knee (disorder)

# compose.include[].concept[].display
Partial aphalangia of lower limb (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of radius AND ulna (disorder)

# compose.include[].concept[].display
Congenital atresia of nasopharynx (disorder)

# compose.include[].concept[].display
Cutis laxa, autosomal recessive (disorder)

# compose.include[].concept[].display
Congenital septal defect of heart (disorder)

# compose.include[].concept[].display
Congenital absence of large intestine (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage (disorder)

# compose.include[].concept[].display
Congenital fusion of sacroiliac joint (disorder)

# compose.include[].concept[].display
Congenital stricture of artery (disorder)

# compose.include[].concept[].display
Common arterial trunk and separate origin of pulmonary arteries (disorder)

# compose.include[].concept[].display
Congenital dislocation of one hip with subluxation of other (disorder)

# compose.include[].concept[].display
Lethal multiple pterygium syndrome (disorder)

# compose.include[].concept[].display
Partial congenital absence of limb (disorder)

# compose.include[].concept[].display
Cleft leaflet of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital absence of clitoris (disorder)

# compose.include[].concept[].display
Congenital anomaly of optic disc (disorder)

# compose.include[].concept[].display
Maternal phenylketonuria fetal effect (disorder)

# compose.include[].concept[].display
Congenital anomaly of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital cyst of mediastinum (disorder)

# compose.include[].concept[].display
Congenital anomaly of stomach (disorder)

# compose.include[].concept[].display
Atrial septal defect with endocardial cushion defect, partial type (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of aortic arch (disorder)

# compose.include[].concept[].display
Posterior fossa arachnoid cyst (disorder)

# compose.include[].concept[].display
Persistent Blake's pouch cyst (disorder)

# compose.include[].concept[].display
Congenital deformity of knee joint (disorder)

# compose.include[].concept[].display
Exstrophy of bladder sequence (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of radius (disorder)

# compose.include[].concept[].display
Arterial anomaly of umbilical cord (disorder)

# compose.include[].concept[].display
Fetal methyl mercury syndrome (disorder)

# compose.include[].concept[].display
Congenital cyst of posterior segment of eye (disorder)

# compose.include[].concept[].display
Congenital deviation of nasal septum (disorder)

# compose.include[].concept[].display
Incomplete bilateral cleft lip (disorder)

# compose.include[].concept[].display
Congenital anomaly of vas deferens (disorder)

# compose.include[].concept[].display
Congenital dilatation of trachea (disorder)

# compose.include[].concept[].display
Persistent tunica vasculosa lentis (disorder)

# compose.include[].concept[].display
Congenital atresia of tricuspid valve (disorder)

# compose.include[].concept[].display
Complex congenital heart defect (disorder)

# compose.include[].concept[].display
Brachydactyly syndrome type E (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder)

# compose.include[].concept[].display
Congenital absence of eyelash (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)

# compose.include[].concept[].display
Embryonic cyst of fimbria of fallopian tube (disorder)

# compose.include[].concept[].display
Aganglionosis of parasympathetic nerve ganglia (disorder)

# compose.include[].concept[].display
Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder)

# compose.include[].concept[].display
Myxedematous form of cretinism (disorder)

# compose.include[].concept[].display
Congenital rhabdomyoma of heart (disorder)

# compose.include[].concept[].display
Partial congenital absence of teeth (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome with facial defects as major feature (disorder)

# compose.include[].concept[].display
Congenital anomaly of parathyroid glands (disorder)

# compose.include[].concept[].display
Congenital anomaly of cerebrovascular system (disorder)

# compose.include[].concept[].display
Congenital fold of posterior segment of eye (disorder)

# compose.include[].concept[].display
Congenital hyperplasia of muscle (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of lower limb (disorder)

# compose.include[].concept[].display
Hyperplasia of pancreatic islet beta cell (disorder)

# compose.include[].concept[].display
Congenital anomaly of upper limb (disorder)

# compose.include[].concept[].display
Congenital absence of alimentary tract (disorder)

# compose.include[].concept[].display
Anomalous pulmonary venous drainage to superior vena cava (disorder)

# compose.include[].concept[].display
Congenital duplication of esophagus (disorder)

# compose.include[].concept[].display
Congenital absence of patella (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, type 5 (disorder)

# compose.include[].concept[].display
Congenital anomaly of membranous labyrinth (disorder)

# compose.include[].concept[].display
Congenital anomaly of cartilage (disorder)

# compose.include[].concept[].display
Anomalous origin of pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of bile duct (disorder)

# compose.include[].concept[].display
Congenital myopathy with abnormal subcellular organelles (disorder)

# compose.include[].concept[].display
Partial anomalous pulmonary venous connection (disorder)

# compose.include[].concept[].display
Congenital melanocytic nevus of skin of face (disorder)

# compose.include[].concept[].display
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of pancreas (disorder)

# compose.include[].concept[].display
Congenital anomaly of fixation of intestine (disorder)

# compose.include[].concept[].display
Congenital anomaly of digestive system (disorder)

# compose.include[].concept[].display
Congenital anomaly of esophagus (disorder)

# compose.include[].concept[].display
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)

# compose.include[].concept[].display
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome (disorder)

# compose.include[].concept[].display
Congenital atresia of aqueduct of Sylvius (disorder)

# compose.include[].concept[].display
WNT4 Müllerian aplasia and ovarian dysfunction (disorder)

# compose.include[].concept[].display
Multiple venous malformation of skin and mucous membrane (disorder)

# compose.include[].concept[].display
Congenital absence of pulmonary valve (disorder)

# compose.include[].concept[].display
Median cleft lip and alveolus (disorder)

# compose.include[].concept[].display
Ectopic tooth in labial sulcus (disorder)

# compose.include[].concept[].display
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder)

# compose.include[].concept[].display
Congenital anomaly of vertebral region of back (disorder)

# compose.include[].concept[].display
Congenital vascular anomaly of eyelid (disorder)

# compose.include[].concept[].display
Congenital vascular anomaly of upper eyelid (disorder)

# compose.include[].concept[].display
Congenital vascular anomaly of lower eyelid (disorder)

# compose.include[].concept[].display
Congenital anomaly of superior vena cava (disorder)

# compose.include[].concept[].display
Early onset myopathy with fatal cardiomyopathy (disorder)

# compose.include[].concept[].display
Chromosome 11p11.2 deletion syndrome (disorder)

# compose.include[].concept[].display
Persistent Müllerian duct syndrome (disorder)

# compose.include[].concept[].display
Crouzon syndrome with acanthosis nigricans (disorder)

# compose.include[].concept[].display
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)

# compose.include[].concept[].display
Congenital cataracts, facial dysmorphism and neuropathy (disorder)

# compose.include[].concept[].display
Congenital aplasia of vas deferens (disorder)

# compose.include[].concept[].display
Congenital anomaly of cerebrum (disorder)

# compose.include[].concept[].display
Congenital adhesions of tongue (disorder)

# compose.include[].concept[].display
Congenital malformation of dural sinus (disorder)

# compose.include[].concept[].display
Congenital anomaly of heart valve (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of face (disorder)

# compose.include[].concept[].display
Cerebrofacial arteriovenous metameric syndrome type 1 (disorder)

# compose.include[].concept[].display
Cerebrofacial arteriovenous metameric syndrome type 3 (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of trunk (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of limb (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of maxilla (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of frontonasal process (disorder)

# compose.include[].concept[].display
Anomalous origin of pulmonary artery from ascending aorta (disorder)

# compose.include[].concept[].display
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)

# compose.include[].concept[].display
Cutis gyrata syndrome of Beare and Stevenson (disorder)

# compose.include[].concept[].display
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder)

# compose.include[].concept[].display
Retinal detachment and occipital encephalocele (disorder)

# compose.include[].concept[].display
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)

# compose.include[].concept[].display
First and second branchial arch syndrome (disorder)

# compose.include[].concept[].display
Occult spinal dysraphism sequence (disorder)

# compose.include[].concept[].display
Incomplete development of membranous labyrinth (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, recessive type 4 (disorder)

# compose.include[].concept[].display
Descending aorta anterior and same side as azygos vein with absent inferior vena cava (disorder)

# compose.include[].concept[].display
Congenital stenosis of left pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital stenosis of right pulmonary artery (disorder)

# compose.include[].concept[].display
Acute respiratory distress in newborn with surfactant disorder (disorder)

# compose.include[].concept[].display
Bronchial atresia with segmental pulmonary emphysema (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder)

# compose.include[].concept[].display
Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder)

# compose.include[].concept[].display
Solitary median maxillary central incisor syndrome (disorder)

# compose.include[].concept[].display
Hypoplasia of first permanent molar tooth (disorder)

# compose.include[].concept[].display
Localized hypoplasia of tooth (disorder)

# compose.include[].concept[].display
Congenital duplication of renal collecting system (disorder)

# compose.include[].concept[].display
Fusion of mandibular incisor teeth (disorder)

# compose.include[].concept[].display
Congenital pulmonary lymphatic dysplasia syndrome (disorder)

# compose.include[].concept[].display
Congenital pulmonary alveolar capillary dysplasia (disorder)

# compose.include[].concept[].display
Congenital pulmonary acinar dysplasia (disorder)

# compose.include[].concept[].display
Congenital malformation of mandibular glenoid fossa (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of upper limb (disorder)

# compose.include[].concept[].display
Periodontitis co-occurrent with Cohen syndrome (disorder)

# compose.include[].concept[].display
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 (disorder)

# compose.include[].concept[].display
Congenital absence of upper arm AND forearm (disorder)

# compose.include[].concept[].display
Caliber persistent labial artery (disorder)

# compose.include[].concept[].display
Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder)

# compose.include[].concept[].display
Thrombocytopathy, asplenia and miosis (disorder)

# compose.include[].concept[].display
Concordant ventriculoarterial connection with parallel great arteries (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, familial joint laxity type (disorder)

# compose.include[].concept[].display
Congenital short bowel syndrome (disorder)

# compose.include[].concept[].display
Chromosome 11p13 deletion syndrome (disorder)

# compose.include[].concept[].display
Ulna metaphyseal dysplasia syndrome (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome classic type (disorder)

# compose.include[].concept[].display
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)

# compose.include[].concept[].display
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

# compose.include[].concept[].display
Isolated lissencephaly type 1 without known genetic defect (disorder)

# compose.include[].concept[].display
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)

# compose.include[].concept[].display
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)

# compose.include[].concept[].display
Embryopathy caused by phenobarbital (disorder)

# compose.include[].concept[].display
Mirror hands and feet co-occurrent with nasal defect (disorder)

# compose.include[].concept[].display
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 2 (disorder)

# compose.include[].concept[].display
Microcephalus microcornea syndrome of Seemanova type (disorder)

# compose.include[].concept[].display
Brachydactylous dwarfism Mseleni type (disorder)

# compose.include[].concept[].display
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)

# compose.include[].concept[].display
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

# compose.include[].concept[].display
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

# compose.include[].concept[].display
Autosomal recessive distal osteolysis syndrome (disorder)

# compose.include[].concept[].display
Rhizomelic dysplasia of Patterson Lowry type (disorder)

# compose.include[].concept[].display
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

# compose.include[].concept[].display
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)

# compose.include[].concept[].display
Deafness and oligodontia syndrome (disorder)

# compose.include[].concept[].display
Tibial aplasia and ectrodactyly syndrome (disorder)

# compose.include[].concept[].display
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)

# compose.include[].concept[].display
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)

# compose.include[].concept[].display
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)

# compose.include[].concept[].display
Oculocutaneous albinism type 4 (disorder)

# compose.include[].concept[].display
Desmin related myopathy with Mallory body-like inclusions (disorder)

# compose.include[].concept[].display
Mesomelic dysplasia Savarirayan type (disorder)

# compose.include[].concept[].display
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)

# compose.include[].concept[].display
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia type 4 (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia type 1 (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia type 5 (disorder)

# compose.include[].concept[].display
Polydactyly of triphalangeal thumb (disorder)

# compose.include[].concept[].display
Pituitary stalk interruption syndrome (disorder)

# compose.include[].concept[].display
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)

# compose.include[].concept[].display
Congenital absence of half of thyroid (disorder)

# compose.include[].concept[].display
Congenital retraction of eyelid (disorder)

# compose.include[].concept[].display
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)

# compose.include[].concept[].display
Lissencephaly type 1 due to doublecortin gene mutation (disorder)

# compose.include[].concept[].display
Steroid 21-monooxygenase deficiency, salt wasting type (disorder)

# compose.include[].concept[].display
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)

# compose.include[].concept[].display
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder)

# compose.include[].concept[].display
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder)

# compose.include[].concept[].display
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type F (disorder)

# compose.include[].concept[].display
Dysplasia of head of femur Meyer type (disorder)

# compose.include[].concept[].display
Familial isolated arrhythmogenic right ventricular dysplasia (disorder)

# compose.include[].concept[].display
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)

# compose.include[].concept[].display
Atrichia with papular lesions (disorder)

# compose.include[].concept[].display
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)

# compose.include[].concept[].display
Congenital heart defect with round face and developmental delay syndrome (disorder)

# compose.include[].concept[].display
Cataract with aberrant oral frenula and growth delay syndrome (disorder)

# compose.include[].concept[].display
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)

# compose.include[].concept[].display
Agenesis of cerebellum and hydrocephalus syndrome (disorder)

# compose.include[].concept[].display
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)

# compose.include[].concept[].display
Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder)

# compose.include[].concept[].display
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

# compose.include[].concept[].display
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)

# compose.include[].concept[].display
Craniofacial digital and genital anomalies syndrome (disorder)

# compose.include[].concept[].display
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)

# compose.include[].concept[].display
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)

# compose.include[].concept[].display
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)

# compose.include[].concept[].display
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)

# compose.include[].concept[].display
Ichthyosis cheek eyebrow syndrome (disorder)

# compose.include[].concept[].display
Absence deformity of leg and congenital cataract syndrome (disorder)

# compose.include[].concept[].display
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

# compose.include[].concept[].display
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Upper limb defect with eye and ear abnormalities syndrome (disorder)

# compose.include[].concept[].display
Mullerian duct and limb anomalies syndrome (disorder)

# compose.include[].concept[].display
Microcephaly with deafness and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Microcornea with corectopia and macular hypoplasia syndrome (disorder)

# compose.include[].concept[].display
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)

# compose.include[].concept[].display
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)

# compose.include[].concept[].display
Deafness with cataract and skeletal anomaly syndrome (disorder)

# compose.include[].concept[].display
Oculocerebral hypopigmentation syndrome of Preus type (disorder)

# compose.include[].concept[].display
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)

# compose.include[].concept[].display
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Short stature with valvular heart disease and characteristic facies syndrome (disorder)

# compose.include[].concept[].display
Pili torti with developmental delay and neurological abnormality syndrome (disorder)

# compose.include[].concept[].display
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)

# compose.include[].concept[].display
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

# compose.include[].concept[].display
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)

# compose.include[].concept[].display
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)

# compose.include[].concept[].display
Deafness with malformation of ear and facial palsy syndrome (disorder)

# compose.include[].concept[].display
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)

# compose.include[].concept[].display
Tetraamelia with multiple malformation syndrome (disorder)

# compose.include[].concept[].display
Congenital duplication of nose (disorder)

# compose.include[].concept[].display
Congenital tubular duplication of esophagus (disorder)

# compose.include[].concept[].display
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of part of upper limb (disorder)

# compose.include[].concept[].display
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)

# compose.include[].concept[].display
Epidermolysis bullosa simplex with circinate migratory erythema (disorder)

# compose.include[].concept[].display
Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)

# compose.include[].concept[].display
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)

# compose.include[].concept[].display
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)

# compose.include[].concept[].display
Familial hypospadias of penis (disorder)

# compose.include[].concept[].display
Familial idiopathic dilatation of right atrium (disorder)

# compose.include[].concept[].display
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)

# compose.include[].concept[].display
Joubert syndrome with ocular defect (disorder)

# compose.include[].concept[].display
Joubert syndrome with renal defect (disorder)

# compose.include[].concept[].display
Biliary atresia with splenic malformation syndrome (disorder)

# compose.include[].concept[].display
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)

# compose.include[].concept[].display
Punctate palmoplantar keratoderma type 1 (disorder)

# compose.include[].concept[].display
Familial digital arthropathy and brachydactyly syndrome (disorder)

# compose.include[].concept[].display
Metaphyseal dysplasia Braun Tinschert type (disorder)

# compose.include[].concept[].display
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)

# compose.include[].concept[].display
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

# compose.include[].concept[].display
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)

# compose.include[].concept[].display
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)

# compose.include[].concept[].display
Syndromic hypoplasia of orbital border (disorder)

# compose.include[].concept[].display
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)

# compose.include[].concept[].display
Bilateral congenital absence of ovary (disorder)

# compose.include[].concept[].display
Bilateral congenital absence of fallopian tube (disorder)

# compose.include[].concept[].display
Bilateral secondary renal dysplasia (disorder)

# compose.include[].concept[].display
Bilateral medullary sponge kidney (disorder)

# compose.include[].concept[].display
Complete duplication of urethra (disorder)

# compose.include[].concept[].display
Partial duplication of urethra (disorder)

# compose.include[].concept[].display
Congenital atresia and stenosis of ureter (disorder)

# compose.include[].concept[].display
Congenital absence of bladder and urethra (disorder)

# compose.include[].concept[].display
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)

# compose.include[].concept[].display
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)

# compose.include[].concept[].display
Coloboma of macula with brachydactyly type B syndrome (disorder)

# compose.include[].concept[].display
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)

# compose.include[].concept[].display
Atresia of the esophagus without tracheoesophageal fistula (disorder)

# compose.include[].concept[].display
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of stomach (disorder)

# compose.include[].concept[].display
Congenital diverticulum of duodenum (disorder)

# compose.include[].concept[].display
Congenital malrotation of duodenum (disorder)

# compose.include[].concept[].display
Hyperinsulinism due to focal adenomatous hyperplasia (disorder)

# compose.include[].concept[].display
Bilateral microtia with deafness and cleft palate syndrome (disorder)

# compose.include[].concept[].display
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)

# compose.include[].concept[].display
Blepharoptosis, myopia, ectopia lentis syndrome (disorder)

# compose.include[].concept[].display
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)

# compose.include[].concept[].display
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

# compose.include[].concept[].display
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)

# compose.include[].concept[].display
Lissencephaly syndrome Norman Roberts type (disorder)

# compose.include[].concept[].display
Congenital dysplasia of cardiac valve (disorder)

# compose.include[].concept[].display
Isolated right ventricular hypoplasia (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1B (disorder)

# compose.include[].concept[].display
Partial defect of atrioventricular canal (disorder)

# compose.include[].concept[].display
Autosomal dominant popliteal pterygium syndrome (disorder)

# compose.include[].concept[].display
Defects of tubular bones and spine (disorder)

# compose.include[].concept[].display
Congenital dilatation of ureter (disorder)

# compose.include[].concept[].display
Familial median cleft of upper and lower lip (disorder)

# compose.include[].concept[].display
Cleft palate with coloboma of eye and deafness syndrome (disorder)

# compose.include[].concept[].display
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Atkin type (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 7 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 6 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 5 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 4 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 3 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 1 (disorder)

# compose.include[].concept[].display
Congenital pontocerebellar hypoplasia type 8 (disorder)

# compose.include[].concept[].display
Acral self-healing collodion baby (disorder)

# compose.include[].concept[].display
Mammary digital nail syndrome (disorder)

# compose.include[].concept[].display
Oro-facial digital syndrome type 9 (disorder)

# compose.include[].concept[].display
Oro-facial digital syndrome type 11 (disorder)

# compose.include[].concept[].display
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)

# compose.include[].concept[].display
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)

# compose.include[].concept[].display
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

# compose.include[].concept[].display
Lissencephaly due to tubulin alpha 1A mutation (disorder)

# compose.include[].concept[].display
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)

# compose.include[].concept[].display
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)

# compose.include[].concept[].display
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)

# compose.include[].concept[].display
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Seemanova type (disorder)

# compose.include[].concept[].display
Syndromic X-linked intellectual disability type 11 (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Siderius type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Stevenson type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Stocco Dos Santos type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Stoll type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Pai type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Miles Carpenter type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Armfield type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Abidi type (disorder)

# compose.include[].concept[].display
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder)

# compose.include[].concept[].display
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)

# compose.include[].concept[].display
Congenital cataract with ataxia and deafness syndrome (disorder)

# compose.include[].concept[].display
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

# compose.include[].concept[].display
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

# compose.include[].concept[].display
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)

# compose.include[].concept[].display
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

# compose.include[].concept[].display
Sparse hair with short stature and skin anomaly syndrome (disorder)

# compose.include[].concept[].display
Spinocerebellar ataxia type 34 (disorder)

# compose.include[].concept[].display
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)

# compose.include[].concept[].display
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)

# compose.include[].concept[].display
Stapes ankylosis with broad thumb and toe syndrome (disorder)

# compose.include[].concept[].display
Steatocystoma multiplex with natal tooth syndrome (disorder)

# compose.include[].concept[].display
Microcephalus with albinism and digital anomaly syndrome (disorder)

# compose.include[].concept[].display
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)

# compose.include[].concept[].display
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)

# compose.include[].concept[].display
Microcephalus cleft palate syndrome (disorder)

# compose.include[].concept[].display
Mesomelic dysplasia Kantaputra type (disorder)

# compose.include[].concept[].display
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

# compose.include[].concept[].display
Lethal hemolytic anemia and genital anomaly syndrome (disorder)

# compose.include[].concept[].display
Lethal omphalocele with cleft palate syndrome (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)

# compose.include[].concept[].display
Disorder of sex development with intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)

# compose.include[].concept[].display
Cleft palate with short stature and vertebral anomaly syndrome (disorder)

# compose.include[].concept[].display
Cleft palate with stapes fixation and oligodontia syndrome (disorder)

# compose.include[].concept[].display
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)

# compose.include[].concept[].display
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)

# compose.include[].concept[].display
Congenital anomaly of broad ligament (disorder)

# compose.include[].concept[].display
Absence of fingerprints with congenital milia syndrome (disorder)

# compose.include[].concept[].display
Absent thumb with short stature and immunodeficiency syndrome (disorder)

# compose.include[].concept[].display
Gingival fibromatosis with facial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia Al-Gazali type (disorder)

# compose.include[].concept[].display
Multiple epiphyseal dysplasia Beighton type (disorder)

# compose.include[].concept[].display
Congenital aplasia of inner ear (disorder)

# compose.include[].concept[].display
X-linked intellectual disability Cabezas type (disorder)

# compose.include[].concept[].display
X-linked intellectual disability with plagiocephaly syndrome (disorder)

# compose.include[].concept[].display
X-linked myopathy with excessive autophagy (disorder)

# compose.include[].concept[].display
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)

# compose.include[].concept[].display
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)

# compose.include[].concept[].display
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)

# compose.include[].concept[].display
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)

# compose.include[].concept[].display
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)

# compose.include[].concept[].display
Renal dysplasia with limb defect syndrome (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Ulna fibula ray defect and brachydactyly syndrome (disorder)

# compose.include[].concept[].display
Ulceration of umbilical cord and atresia of intestine syndrome (disorder)

# compose.include[].concept[].display
Chromosome Xq28 trisomy syndrome (disorder)

# compose.include[].concept[].display
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)

# compose.include[].concept[].display
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

# compose.include[].concept[].display
Taurodontia with absent teeth and sparse hair syndrome (disorder)

# compose.include[].concept[].display
Tel Hashomer camptodactyly syndrome (disorder)

# compose.include[].concept[].display
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)

# compose.include[].concept[].display
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)

# compose.include[].concept[].display
Trigonocephaly with broad thumb syndrome (disorder)

# compose.include[].concept[].display
Triphalangeal thumb and polysyndactyly syndrome (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1C (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)

# compose.include[].concept[].display
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)

# compose.include[].concept[].display
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)

# compose.include[].concept[].display
Microphthalmia with brain atrophy syndrome (disorder)

# compose.include[].concept[].display
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)

# compose.include[].concept[].display
Acrofacial dysostosis Catania type (disorder)

# compose.include[].concept[].display
Acrofacial dysostosis Kennedy Teebi type (disorder)

# compose.include[].concept[].display
Acrofacial dysostosis Palagonia type (disorder)

# compose.include[].concept[].display
Acrofacial dysostosis Rodriguez type (disorder)

# compose.include[].concept[].display
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

# compose.include[].concept[].display
Aniridia and absent patella syndrome (disorder)

# compose.include[].concept[].display
Aniridia and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)

# compose.include[].concept[].display
Anonychia with microcephaly syndrome (disorder)

# compose.include[].concept[].display
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

# compose.include[].concept[].display
Aphalangy and syndactyly with microcephaly syndrome (disorder)

# compose.include[].concept[].display
Aplasia cutis with myopia syndrome (disorder)

# compose.include[].concept[].display
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)

# compose.include[].concept[].display
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Arrhinia with choanal atresia and microphthalmia syndrome (disorder)

# compose.include[].concept[].display
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)

# compose.include[].concept[].display
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)

# compose.include[].concept[].display
Bosley Salih Alorainy syndrome (disorder)

# compose.include[].concept[].display
Brachydactyly and arterial hypertension syndrome (disorder)

# compose.include[].concept[].display
Brachydactyly with syndactyly Zhao type (disorder)

# compose.include[].concept[].display
Brain calcification Rajab type (disorder)

# compose.include[].concept[].display
Doughnut lesion of calvaria and bone fragility syndrome (disorder)

# compose.include[].concept[].display
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)

# compose.include[].concept[].display
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

# compose.include[].concept[].display
Camptodactyly syndrome Guadalajara type 1 (disorder)

# compose.include[].concept[].display
Camptodactyly syndrome Guadalajara type 2 (disorder)

# compose.include[].concept[].display
Cardiac anomaly and heterotaxy syndrome (disorder)

# compose.include[].concept[].display
Cardiocranial syndrome Pfeiffer type (disorder)

# compose.include[].concept[].display
Cardiomyopathy and renal anomaly syndrome (disorder)

# compose.include[].concept[].display
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)

# compose.include[].concept[].display
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)

# compose.include[].concept[].display
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)

# compose.include[].concept[].display
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)

# compose.include[].concept[].display
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Craniofacial ulnar renal syndrome (disorder)

# compose.include[].concept[].display
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)

# compose.include[].concept[].display
Czech dysplasia metatarsal type (disorder)

# compose.include[].concept[].display
Choroidal atrophy and alopecia syndrome (disorder)

# compose.include[].concept[].display
Chondrodysplasia with disorder of sex development syndrome (disorder)

# compose.include[].concept[].display
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)

# compose.include[].concept[].display
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome cardiac valvular type (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome progeroid type (disorder)

# compose.include[].concept[].display
Aplasia of fibula and ectrodactyly syndrome (disorder)

# compose.include[].concept[].display
Fibular dimelia diplopodia syndrome (disorder)

# compose.include[].concept[].display
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)

# compose.include[].concept[].display
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)

# compose.include[].concept[].display
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

# compose.include[].concept[].display
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)

# compose.include[].concept[].display
Hair defect with photosensitivity and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Heart defect and limb shortening syndrome (disorder)

# compose.include[].concept[].display
Heart-hand syndrome Slovenian type (disorder)

# compose.include[].concept[].display
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)

# compose.include[].concept[].display
Postaxial polydactyly and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Short fifth metacarpal insulin resistance syndrome (disorder)

# compose.include[].concept[].display
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

# compose.include[].concept[].display
Short stature with webbed neck and congenital heart disease syndrome (disorder)

# compose.include[].concept[].display
Short tarsus with absence of lower eyelashes syndrome (disorder)

# compose.include[].concept[].display
Siegler Brewer Carey syndrome (disorder)

# compose.include[].concept[].display
Deaf blind hypopigmentation syndrome Yemenite type (disorder)

# compose.include[].concept[].display
Deafness, enamel hypoplasia, nail defect syndrome (disorder)

# compose.include[].concept[].display
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)

# compose.include[].concept[].display
Deafness and intellectual disability Martin Probst type syndrome (disorder)

# compose.include[].concept[].display
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)

# compose.include[].concept[].display
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)

# compose.include[].concept[].display
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)

# compose.include[].concept[].display
Hidrotic ectodermal dysplasia Halal type (disorder)

# compose.include[].concept[].display
Congenital absence of gastric muscle (disorder)

# compose.include[].concept[].display
Duplication cyst of esophagus (disorder)

# compose.include[].concept[].display
Long gap atresia of esophagus (disorder)

# compose.include[].concept[].display
Ectodermal dysplasia with blindness syndrome (disorder)

# compose.include[].concept[].display
Hirschsprung disease with deafness and polydactyly syndrome (disorder)

# compose.include[].concept[].display
Hirschsprung disease with type D brachydactyly syndrome (disorder)

# compose.include[].concept[].display
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)

# compose.include[].concept[].display
Hydrocephalus with obesity and hypogonadism syndrome (disorder)

# compose.include[].concept[].display
Hirschsprung disease of rectosigmoid region (disorder)

# compose.include[].concept[].display
Congenital diverticulosis of small intestine (disorder)

# compose.include[].concept[].display
Congenital diverticulum of small intestine (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of large intestine (disorder)

# compose.include[].concept[].display
Hypertelorism with microtia and facial clefting syndrome (disorder)

# compose.include[].concept[].display
Hypertrichosis and acromegaloid facial appearance syndrome (disorder)

# compose.include[].concept[].display
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)

# compose.include[].concept[].display
Joubert syndrome with congenital hepatic fibrosis (disorder)

# compose.include[].concept[].display
Joubert syndrome with oculorenal defect (disorder)

# compose.include[].concept[].display
Joubert syndrome with orofaciodigital defect (disorder)

# compose.include[].concept[].display
Microphthalmia with brain and digit anomaly (disorder)

# compose.include[].concept[].display
Microphthalmia with linear skin defect syndrome (disorder)

# compose.include[].concept[].display
Congenital microgastria with limb reduction defect syndrome (disorder)

# compose.include[].concept[].display
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)

# compose.include[].concept[].display
Puerto Rican infant hypotonia syndrome (disorder)

# compose.include[].concept[].display
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)

# compose.include[].concept[].display
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)

# compose.include[].concept[].display
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)

# compose.include[].concept[].display
Lymphedema, atrial septal defect, facial changes syndrome (disorder)

# compose.include[].concept[].display
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder)

# compose.include[].concept[].display
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

# compose.include[].concept[].display
Intellectual disability with cataract and kyphosis syndrome (disorder)

# compose.include[].concept[].display
Agenesis of internal carotid artery (disorder)

# compose.include[].concept[].display
Kallman syndrome with heart disease (disorder)

# compose.include[].concept[].display
Macrocephaly, short stature, paraplegia syndrome (disorder)

# compose.include[].concept[].display
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder)

# compose.include[].concept[].display
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)

# compose.include[].concept[].display
Ocular albinism with late-onset sensorineural deafness (disorder)

# compose.include[].concept[].display
Oculocutaneous albinism type 5 (disorder)

# compose.include[].concept[].display
Oculocutaneous albinism type 6 (disorder)

# compose.include[].concept[].display
Oculocutaneous albinism type 7 (disorder)

# compose.include[].concept[].display
Oro-facial digital syndrome type 10 (disorder)

# compose.include[].concept[].display
Oro-facial digital syndrome type 5 (disorder)

# compose.include[].concept[].display
Oro-facial digital syndrome type 8 (disorder)

# compose.include[].concept[].display
Ossification anomaly with psychomotor developmental delay syndrome (disorder)

# compose.include[].concept[].display
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

# compose.include[].concept[].display
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)

# compose.include[].concept[].display
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)

# compose.include[].concept[].display
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)

# compose.include[].concept[].display
Palmoplantar keratoderma with deafness syndrome (disorder)

# compose.include[].concept[].display
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)

# compose.include[].concept[].display
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)

# compose.include[].concept[].display
Severe X-linked intellectual disability Gustavson type (disorder)

# compose.include[].concept[].display
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)

# compose.include[].concept[].display
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)

# compose.include[].concept[].display
Albinism with deafness syndrome (disorder)

# compose.include[].concept[].display
Autism and facial port-wine stain syndrome (disorder)

# compose.include[].concept[].display
Autosomal recessive popliteal pterygium syndrome (disorder)

# compose.include[].concept[].display
Congenital cataract with deafness and hypogonadism syndrome (disorder)

# compose.include[].concept[].display
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)

# compose.include[].concept[].display
Cataract and microcornea syndrome (disorder)

# compose.include[].concept[].display
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

# compose.include[].concept[].display
Postductal coarctation of aorta (disorder)

# compose.include[].concept[].display
Distal limb deficiency with micrognathia syndrome (disorder)

# compose.include[].concept[].display
Double uterus, hemivagina, renal agenesis syndrome (disorder)

# compose.include[].concept[].display
Duane anomaly, myopathy, scoliosis syndrome (disorder)

# compose.include[].concept[].display
Dystrophic epidermolysis bullosa nails only (disorder)

# compose.include[].concept[].display
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)

# compose.include[].concept[].display
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)

# compose.include[].concept[].display
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)

# compose.include[].concept[].display
Gomez Lopez Hernandez syndrome (disorder)

# compose.include[].concept[].display
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)

# compose.include[].concept[].display
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)

# compose.include[].concept[].display
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)

# compose.include[].concept[].display
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)

# compose.include[].concept[].display
Thickened earlobe with conductive deafness syndrome (disorder)

# compose.include[].concept[].display
Skeletal dysplasia with intellectual disability syndrome (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of cardiac vein (disorder)

# compose.include[].concept[].display
Immature ganglionosis of large intestine (disorder)

# compose.include[].concept[].display
Congenital hypoganglionosis of large intestine (disorder)

# compose.include[].concept[].display
Congenital developmental anomaly of cystic duct (disorder)

# compose.include[].concept[].display
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder)

# compose.include[].concept[].display
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder)

# compose.include[].concept[].display
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)

# compose.include[].concept[].display
Congenital malformation of autonomic nervous system (disorder)

# compose.include[].concept[].display
Basal epidermolysis bullosa simplex (disorder)

# compose.include[].concept[].display
Aganglionosis of large intestine (disorder)

# compose.include[].concept[].display
Congenital absence of diaphragm (disorder)

# compose.include[].concept[].display
Short rib-polydactyly syndrome, Majewski type (disorder)

# compose.include[].concept[].display
Congenital cystic disease of liver (disorder)

# compose.include[].concept[].display
Congenital anomaly of epiglottis (disorder)

# compose.include[].concept[].display
Congenital absence of parathyroid gland (disorder)

# compose.include[].concept[].display
Congenital absence of germinal epithelium of testes (disorder)

# compose.include[].concept[].display
Congenital anomaly of musculoskeletal system (disorder)

# compose.include[].concept[].display
Common arterial trunk and common origin of pulmonary arteries (disorder)

# compose.include[].concept[].display
Congenital malposition of digestive organs (disorder)

# compose.include[].concept[].display
Congenital anomaly of pituitary gland (disorder)

# compose.include[].concept[].display
Coronary artery arising from main pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital atresia of epiglottis (disorder)

# compose.include[].concept[].display
Double outlet right ventricle (disorder)

# compose.include[].concept[].display
Congenital absence of inferior vena cava (disorder)

# compose.include[].concept[].display
Congenital stricture of ureter (disorder)

# compose.include[].concept[].display
Congenital absence of eustachian tube (disorder)

# compose.include[].concept[].display
Congenital diverticulum of left ventricle (disorder)

# compose.include[].concept[].display
Congenital absence of ossicles of ear (disorder)

# compose.include[].concept[].display
Congenital atresia of external auditory canal (disorder)

# compose.include[].concept[].display
Congenital anomaly of mitral valve (disorder)

# compose.include[].concept[].display
Anomalous origin of coronary artery (disorder)

# compose.include[].concept[].display
Congenital deformity of chest wall (disorder)

# compose.include[].concept[].display
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

# compose.include[].concept[].display
Congenital anomaly of ossicles of ear (disorder)

# compose.include[].concept[].display
Congenital anomaly of ureter and renal pelvis (disorder)

# compose.include[].concept[].display
Longitudinal deficiency of fibula (disorder)

# compose.include[].concept[].display
Complete aphalangia of upper limb (disorder)

# compose.include[].concept[].display
Spina bifida of lumbar region (disorder)

# compose.include[].concept[].display
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)

# compose.include[].concept[].display
Multiple malformation syndrome, moderate short stature, facial (disorder)

# compose.include[].concept[].display
Steinert myotonic dystrophy syndrome (disorder)

# compose.include[].concept[].display
Persistent left superior vena cava (disorder)

# compose.include[].concept[].display
Complete phocomelia of upper limb (disorder)

# compose.include[].concept[].display
Acyanotic congenital heart disease (disorder)

# compose.include[].concept[].display
Cleft leaflet of mitral valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of part of brain (disorder)

# compose.include[].concept[].display
Autosomal recessive ocular albinism (disorder)

# compose.include[].concept[].display
Congenital elevation of scapula (disorder)

# compose.include[].concept[].display
Congenital anomaly of muscle AND/OR tendon (disorder)

# compose.include[].concept[].display
Congenital deformity of clavicle (disorder)

# compose.include[].concept[].display
Congenital anomaly of aortic arch (disorder)

# compose.include[].concept[].display
Congenital displacement of esophagus (disorder)

# compose.include[].concept[].display
Congenital duplication of liver (disorder)

# compose.include[].concept[].display
Congenital dilatation of aortic root (disorder)

# compose.include[].concept[].display
Congenital atresia of broad ligament (disorder)

# compose.include[].concept[].display
Congenital anomaly of thyroid cartilage (disorder)

# compose.include[].concept[].display
Congenital spondylolysis of lumbosacral region (disorder)

# compose.include[].concept[].display
Congenital stricture of vesicourethral orifice (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of lung (disorder)

# compose.include[].concept[].display
Congenital anomaly of spinal cord (disorder)

# compose.include[].concept[].display
Congenital diverticulum of bladder (disorder)

# compose.include[].concept[].display
Congenital anomaly of abdominal wall (disorder)

# compose.include[].concept[].display
Congenital anomaly of inferior vena cava (disorder)

# compose.include[].concept[].display
Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder)

# compose.include[].concept[].display
Yellow mutant oculocutaneous albinism (disorder)

# compose.include[].concept[].display
Multiple system malformation syndrome (disorder)

# compose.include[].concept[].display
Embryonic cyst of Gartner's duct (disorder)

# compose.include[].concept[].display
Congenital cystic kidney disease (disorder)

# compose.include[].concept[].display
Congenital anomaly of prostate (disorder)

# compose.include[].concept[].display
Congenital atresia of extrahepatic bile duct (disorder)

# compose.include[].concept[].display
Congenital absence of pancreas (disorder)

# compose.include[].concept[].display
Congenital partial absence of alimentary tract (disorder)

# compose.include[].concept[].display
Congenital malformation of nasal septum (disorder)

# compose.include[].concept[].display
Congenital insufficiency of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital absence of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital anomaly of spermatic cord (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, type 1 (disorder)

# compose.include[].concept[].display
Corrected transposition of great vessels (disorder)

# compose.include[].concept[].display
Congenital absence of skull bone (disorder)

# compose.include[].concept[].display
Arteriovenous malformation of liver (disorder)

# compose.include[].concept[].display
Congenital atresia of small intestine (disorder)

# compose.include[].concept[].display
Congenital anomaly of skeletal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of lower limb (disorder)

# compose.include[].concept[].display
Congenital anomaly of fallopian tubes (disorder)

# compose.include[].concept[].display
Common arterial trunk and widely separate origin of pulmonary arteries (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of testis (disorder)

# compose.include[].concept[].display
Color changes during tooth formation (disorder)

# compose.include[].concept[].display
Congenital diverticulum of colon (disorder)

# compose.include[].concept[].display
Solitary multilocular renal cyst (disorder)

# compose.include[].concept[].display
Congenital anomaly of thoracic cage (disorder)

# compose.include[].concept[].display
Congenital absence of gallbladder (disorder)

# compose.include[].concept[].display
Ehlers-Danlos syndrome, dominant type 4 (disorder)

# compose.include[].concept[].display
Congenital ankylosis of elbow (disorder)

# compose.include[].concept[].display
Congenital subaortic stenosis due to fibromuscular shelf (disorder)

# compose.include[].concept[].display
Congenital absence of appendix (disorder)

# compose.include[].concept[].display
Hyperplasia of islet alpha cells with glucagon excess (disorder)

# compose.include[].concept[].display
Congenital anomaly of diaphragm (disorder)

# compose.include[].concept[].display
Congenital anomaly of nervous system (disorder)

# compose.include[].concept[].display
Anomalous muscle bands of right ventricle (disorder)

# compose.include[].concept[].display
Lateral developmental cyst of jaw (disorder)

# compose.include[].concept[].display
Congenital absence of spermatic cord (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of breast (disorder)

# compose.include[].concept[].display
Congenital displacement of stomach (disorder)

# compose.include[].concept[].display
Complete aphalangia of lower limb (disorder)

# compose.include[].concept[].display
Congenital anomaly of skeletal muscle (disorder)

# compose.include[].concept[].display
Ectopic pancreatic tissue in stomach (disorder)

# compose.include[].concept[].display
Porokeratosis of Mibelli, linear unilateral type (disorder)

# compose.include[].concept[].display
Autositic twin of asymmetrical conjoined twins (disorder)

# compose.include[].concept[].display
Congenital diverticulum of stomach (disorder)

# compose.include[].concept[].display
Fused commissures of mitral valve (disorder)

# compose.include[].concept[].display
Abnormal communication between pericardial sac and peritoneal cavity (disorder)

# compose.include[].concept[].display
Congenital absence of stomach (disorder)

# compose.include[].concept[].display
Congenital absence of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital absence of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital absence of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital absence of calcaneus (disorder)

# compose.include[].concept[].display
Congenital absence of carpal bone (disorder)

# compose.include[].concept[].display
Congenital absence of centrum of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of centrum of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of arch of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of epididymis (disorder)

# compose.include[].concept[].display
Congenital absence of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital absence of frontal bone (disorder)

# compose.include[].concept[].display
Congenital absence of hyoid bone (disorder)

# compose.include[].concept[].display
Congenital absence of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital absence of intestinal tract (disorder)

# compose.include[].concept[].display
Congenital absence of ischium (disorder)

# compose.include[].concept[].display
Congenital absence of lacrimal bone (disorder)

# compose.include[].concept[].display
Congenital absence of arch of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of centrum of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of mandible (disorder)

# compose.include[].concept[].display
Congenital absence of maxilla (disorder)

# compose.include[].concept[].display
Congenital absence of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital absence of metatarsal bone (disorder)

# compose.include[].concept[].display
Congenital absence of nasal bone (disorder)

# compose.include[].concept[].display
Congenital absence of palatine bone (disorder)

# compose.include[].concept[].display
Congenital absence of parietal bone (disorder)

# compose.include[].concept[].display
Congenital absence of premaxilla (disorder)

# compose.include[].concept[].display
Congenital absence of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital absence of arch of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of scapula (disorder)

# compose.include[].concept[].display
Congenital absence of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital absence of sternebra (disorder)

# compose.include[].concept[].display
Congenital absence of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital absence of tarsal bone (disorder)

# compose.include[].concept[].display
Congenital absence of arch of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of centrum of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital absence of tympanic anulus (disorder)

# compose.include[].concept[].display
Congenital absence of zygomatic bone (disorder)

# compose.include[].concept[].display
Benign neoplasm of ectopic male breast tissue (disorder)

# compose.include[].concept[].display
Cleft cartilaginous centrum of cervical vertebra (disorder)

# compose.include[].concept[].display
Cleft cartilaginous centrum of lumbar vertebra (disorder)

# compose.include[].concept[].display
Cleft cartilaginous centrum of sacral vertebra (disorder)

# compose.include[].concept[].display
Cleft cartilaginous centrum of thoracic vertebra (disorder)

# compose.include[].concept[].display
Bipartite ossification of centrum of cervical vertebra (disorder)

# compose.include[].concept[].display
Bipartite ossification of interparietal bone (disorder)

# compose.include[].concept[].display
Bipartite ossification of centrum of lumbar vertebra (disorder)

# compose.include[].concept[].display
Bipartite ossification of centrum of sacral vertebra (disorder)

# compose.include[].concept[].display
Bipartite ossification of sternebra (disorder)

# compose.include[].concept[].display
Bipartite ossification of supraoccipital bone (disorder)

# compose.include[].concept[].display
Bipartite ossification of centrum of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital bowing of tibia and/or fibula (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of adrenal glands (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of arch of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of arch of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of arch of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of arch of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of calcaneus (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of carpal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum cartilage of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum cartilage of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum cartilage of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum cartilage of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of centrum of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of femur (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of fibula (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of frontal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of humerus (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of ilium (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of ischium (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of lacrimal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of liver lobes (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of mandible (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of maxilla (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of metatarsal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of nasal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of palatine bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of parietal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of premaxilla (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of radius (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of rib cartilage (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of talus (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of tarsal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of tibia (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of tympanic anulus (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of ulna (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of vomer (disorder)

# compose.include[].concept[].display
Congenital abnormal fusion of zygomatic bone (disorder)

# compose.include[].concept[].display
Congenital abnormal long growth of bile duct (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of aortic valve (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of arch of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of arch of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of arch of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of auditory ossicles (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of calcaneus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of carpal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of centrum of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of centrum of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of centrum of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of centrum of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of cerebellum (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of cerebrum (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of clavicle (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of digit (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of femur (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of fibula (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of frontal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of gallbladder (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of humerus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of hyoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of ilium (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of inner ear (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of ischium (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of kidney (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of lacrimal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of mitral valve (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of liver (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of lung (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of mandible (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of maxilla (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of metatarsal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of nasal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of ovary (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of fallopian tube (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of palate rugae (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of palatine bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of parietal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of pinna (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of premaxilla (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of pubis (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of radius (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of rib (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of scapula (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of spleen (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of sternebra (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of talus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of tarsal bone (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of testis (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of thymus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of tibia (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of tympanic anulus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of ulna (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of uterus (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of vomer (disorder)

# compose.include[].concept[].display
Congenital abnormal shape of zygomatic bone (disorder)

# compose.include[].concept[].display
Congenital absence of aortic valve (disorder)

# compose.include[].concept[].display
Congenital absence of azygos vein (disorder)

# compose.include[].concept[].display
Congenital absence of carotid artery (disorder)

# compose.include[].concept[].display
Congenital absence of chordae tendineae (disorder)

# compose.include[].concept[].display
Congenital absence of ductus arteriosus (disorder)

# compose.include[].concept[].display
Congenital absence of eye bulge (disorder)

# compose.include[].concept[].display
Congenital absence of genital tubercle (disorder)

# compose.include[].concept[].display
Congenital absence of mitral valve (disorder)

# compose.include[].concept[].display
Congenital absence of nasal turbinate (disorder)

# compose.include[].concept[].display
Congenital absence of nasal septum (disorder)

# compose.include[].concept[].display
Congenital absence of oviduct (disorder)

# compose.include[].concept[].display
Congenital absence of papillary muscle (disorder)

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Congenital absence of renal papilla (disorder)

# compose.include[].concept[].display
Congenital absence of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital absence of subclavian artery (disorder)

# compose.include[].concept[].display
Congenital absence of thyroid gland (disorder)

# compose.include[].concept[].display
Congenital fenestration of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of azygos vein (disorder)

# compose.include[].concept[].display
Congenital anomaly of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of carotid artery (disorder)

# compose.include[].concept[].display
Congenital anomaly of caudal vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of epididymis (disorder)

# compose.include[].concept[].display
Congenital anomaly of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of fetal head bones (disorder)

# compose.include[].concept[].display
Congenital anomaly of frontal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of hyoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of ischium (disorder)

# compose.include[].concept[].display
Congenital anomaly of lacrimal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of nasal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of nasal turbinate (disorder)

# compose.include[].concept[].display
Congenital anomaly of palatine bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of parietal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of pelvic bones (disorder)

# compose.include[].concept[].display
Congenital anomaly of pericardium (disorder)

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Congenital anomaly of premaxilla (disorder)

# compose.include[].concept[].display
Congenital anomaly of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of rib cartilage (disorder)

# compose.include[].concept[].display
Congenital anomaly of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of sternebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital anomaly of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital anomaly of zygomatic bone (disorder)

# compose.include[].concept[].display
Congenital atresia of inferior vena cava (disorder)

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Congenital atresia of intestinal tract (disorder)

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Congenital atresia of superior vena cava (disorder)

# compose.include[].concept[].display
Congenital fenestration of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital branched rib cartilage (disorder)

# compose.include[].concept[].display
Congenital dilatation of aortic arch (disorder)

# compose.include[].concept[].display
Congenital dilatation of atrium (disorder)

# compose.include[].concept[].display
Congenital dilatation of bladder (disorder)

# compose.include[].concept[].display
Congenital dilatation of cardiac ventricle (disorder)

# compose.include[].concept[].display
Congenital dilatation of carotid artery (disorder)

# compose.include[].concept[].display
Congenital dilatation of ductus arteriosus (disorder)

# compose.include[].concept[].display
Congenital dilatation of inferior vena cava (disorder)

# compose.include[].concept[].display
Congenital dilatation of innominate artery (disorder)

# compose.include[].concept[].display
Congenital dilatation of intestinal tract (disorder)

# compose.include[].concept[].display
Congenital dilatation of pulmonary artery (disorder)

# compose.include[].concept[].display
Congenital dilatation of stomach (disorder)

# compose.include[].concept[].display
Congenital dilatation of subclavian artery (disorder)

# compose.include[].concept[].display
Congenital dilatation of superior vena cava (disorder)

# compose.include[].concept[].display
Congenital diverticulum of intestinal tract (disorder)

# compose.include[].concept[].display
Congenital duplication of aorta (disorder)

# compose.include[].concept[].display
Congenital downward displacement of stomach (disorder)

# compose.include[].concept[].display
Congenital elongation of innominate artery (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of aortic valve (disorder)

# compose.include[].concept[].display
Congenital enlargement of fontanel (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of lung (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of nasal cavity (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of ovary (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of fallopian tube (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of tricuspid valve (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of testis (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of cardiac ventricle (disorder)

# compose.include[].concept[].display
Congenital fenestration of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of frontal bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of nasal bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of parietal bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of premaxilla (disorder)

# compose.include[].concept[].display
Congenital fenestration of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital fenestration of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital fistula of intestinal tract (disorder)

# compose.include[].concept[].display
Congenital focal enlargement of rib (disorder)

# compose.include[].concept[].display
Congenital hyperextension of limb (disorder)

# compose.include[].concept[].display
Lack of ossification of fibula (disorder)

# compose.include[].concept[].display
Lack of ossification of frontal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of humerus (disorder)

# compose.include[].concept[].display
Lack of ossification of hyoid bone (disorder)

# compose.include[].concept[].display
Lack of ossification of ilium (disorder)

# compose.include[].concept[].display
Lack of ossification of interparietal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of lacrimal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of mandible (disorder)

# compose.include[].concept[].display
Lack of ossification of maxilla (disorder)

# compose.include[].concept[].display
Lack of ossification of metacarpal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of metatarsal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of nasal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of palatine bone (disorder)

# compose.include[].concept[].display
Lack of ossification of parietal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of premaxilla (disorder)

# compose.include[].concept[].display
Lack of ossification of presphenoid bone (disorder)

# compose.include[].concept[].display
Lack of ossification of radius (disorder)

# compose.include[].concept[].display
Lack of ossification of scapula (disorder)

# compose.include[].concept[].display
Lack of ossification of squamosal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of sternebra (disorder)

# compose.include[].concept[].display
Lack of ossification of supraoccipital bone (disorder)

# compose.include[].concept[].display
Lack of ossification of talus (disorder)

# compose.include[].concept[].display
Lack of ossification of tarsal bone (disorder)

# compose.include[].concept[].display
Lack of ossification of tibia (disorder)

# compose.include[].concept[].display
Lack of ossification of tympanic anulus (disorder)

# compose.include[].concept[].display
Lack of ossification of vomer (disorder)

# compose.include[].concept[].display
Lack of ossification of zygomatic bone (disorder)

# compose.include[].concept[].display
Congenital hyperflexion of limb (disorder)

# compose.include[].concept[].display
Congenital hypertrophy of mitral valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of alisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of aortic valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of arch of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of arch of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of arch of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of arch of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of basioccipital bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of basisphenoid bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of bladder (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of calcaneus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of cardiac ventricle (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of carpal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of cerebrum (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of clavicle (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of epididymis (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of exoccipital bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of eye bulge (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of femur (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of fibula (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of frontal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of gallbladder (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of genital tubercle (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of gonad (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of heart (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of humerus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of hyoid bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ilium (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of interparietal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of intestinal tract (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ischium (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of lacrimal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of mitral valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of metacarpal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of metatarsal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of nasal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of nasal cavity (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of nasal turbinate (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of nasal septum (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of nose (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ovary (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of fallopian tube (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of palatine bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of parietal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of premaxilla (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of presphenoid bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of pubis (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of pulmonary valve (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of radius (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of renal pelvis (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of spleen (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of squamosal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of supraoccipital bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of talus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of tarsal bone (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of thymus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of tibia (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of tympanic anulus (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of ulna (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of vas deferens (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of vomer (disorder)

# compose.include[].concept[].display
Congenital hypoplasia of zygomatic bone (disorder)

# compose.include[].concept[].display
Congenital malposition of adrenal gland (disorder)

# compose.include[].concept[].display
Congenital malposition of aorta (disorder)

# compose.include[].concept[].display
Congenital malposition of arch of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital malposition of arch of lumbar vertebra (disorder)

# compose.include[].concept[].display
Congenital malposition of arch of sacral vertebra (disorder)

# compose.include[].concept[].display
Congenital malposition of arch of thoracic vertebra (disorder)

# compose.include[].concept[].display
Congenital malposition of calcaneus (disorder)

# compose.include[].concept[].display
Congenital malposition of carotid artery (disorder)

# compose.include[].concept[].display
Congenital malposition of carpal bone (disorder)

# compose.include[].concept[].display
Congenital malposition of cervical vertebra (disorder)

# compose.include[].concept[].display
Congenital malposition of digit (disorder)

# compose.include[].concept[].display
Congenital malposition of ductus arteriosus (disorder)

# compose.include[].concept[].display
Congenital malposition of epididymis (disorder)

# compose.include[].concept[].display
Congenital malposition of eye (disorder)

# compose.include[].concept[].display
Congenital malposition of femur (disorder)

# compose.include[].concept[].display
Congenital malposition of fibula (disorder)

# compose.include[].concept[].display
Congenital malposition of gallbladder (disorder)

# compose.include[].concept[].display
Congenital malposition of humerus (disorder)

# compose.include[].concept[].display
Congenital malposition of ilium (disorder)

# compose.include[].concept[].display
Congenital malposition of inferior vena cava (disorder)

# compose.include[].concept[].display
Congenital malposition of innominate artery (disorder)

# compose.include[].concept[].display
Congenital malposition of intestinal tract (disorder)

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Congenital malposition of ischium (disorder)

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Congenital malposition of liver (disorder)

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Congenital malposition of lumbar vertebra (disorder)

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Congenital malposition of lung (disorder)

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Congenital malposition of metacarpal bone (disorder)

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Congenital malposition of metatarsal bone (disorder)

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Congenital malposition of nares (disorder)

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Congenital malposition of nasal turbinate (disorder)

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Congenital malposition of nasal septum (disorder)

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Congenital malposition of nose (disorder)

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Congenital malposition of ovary (disorder)

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Congenital malposition of fallopian tube (disorder)

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Congenital malposition of palate rugae (disorder)

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Congenital malposition of pinna (disorder)

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Congenital malposition of pubis (disorder)

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Congenital malposition of pulmonary artery (disorder)

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Congenital malposition of radius (disorder)

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Congenital malposition of rib (disorder)

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Congenital malposition of sacral vertebra (disorder)

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Congenital malposition of spleen (disorder)

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Congenital malposition of sternebra (disorder)

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Congenital malposition of subclavian artery (disorder)

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Congenital malposition of superior vena cava (disorder)

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Congenital malposition of talus (disorder)

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Congenital malposition of tarsal bone (disorder)

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Congenital malposition of testis (disorder)

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Congenital malposition of the thyroid gland (disorder)

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Congenital malposition of thoracic vertebra (disorder)

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Congenital malposition of thymus (disorder)

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Congenital malposition of tibia (disorder)

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Congenital malposition of trachea (disorder)

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Congenital malposition of ulna (disorder)

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Congenital malposition of vas deferens (disorder)

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Congenital malrotation of limb (disorder)

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Congenital misalignment of arch of cervical vertebra (disorder)

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Congenital misalignment of centrum of cervical vertebra (disorder)

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Congenital misalignment of arch of lumbar vertebra (disorder)

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Congenital misalignment of centrum of lumbar vertebra (disorder)

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Congenital misalignment of palate rugae (disorder)

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Congenital misalignment of pubis (disorder)

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Congenital misalignment of rib (disorder)

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Congenital misalignment of arch of sacral vertebra (disorder)

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Congenital misalignment of centrum of sacral vertebra (disorder)

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Congenital misalignment of sternebra (disorder)

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Congenital misalignment of arch of thoracic vertebra (disorder)

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Congenital misalignment of centrum of thoracic vertebra (disorder)

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Congenital protrusion of tongue (disorder)

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Congenital short growth of innominate artery (disorder)

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Congenital thickening of clavicle (disorder)

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Congenital thickening of femur (disorder)

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Congenital thickening of fibula (disorder)

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Congenital thickening of humerus (disorder)

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Congenital thickening of ilium (disorder)

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Congenital thickening of ischium (disorder)

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Congenital thickening of pubis (disorder)

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Congenital thickening of radius (disorder)

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Congenital thickening of scapula (disorder)

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Congenital thickening of talus (disorder)

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Congenital thickening of tarsal bone (disorder)

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Congenital thickening of tibia (disorder)

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Congenital thickening of ulna (disorder)

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Congenital transposition of azygos vein (disorder)

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Dumbbell ossification of centrum of cervical vertebra (disorder)

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Dumbbell ossification of centrum of lumbar vertebra (disorder)

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Dumbbell ossification of centrum of sacral vertebra (disorder)

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Dumbbell ossification of centrum of thoracic vertebra (disorder)

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Dumbbell-shaped cartilaginous centrum of cervical vertebra (disorder)

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Dumbbell-shaped cartilaginous centrum of lumbar vertebra (disorder)

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Dumbbell-shaped cartilaginous centrum of sacral vertebra (disorder)

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Dumbbell-shaped cartilaginous centrum of thoracic vertebra (disorder)

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Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)

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Incomplete ossification of alisphenoid bone (disorder)

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Incomplete ossification of arch of cervical vertebra (disorder)

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Incomplete ossification of arch of lumbar vertebra (disorder)

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Incomplete ossification of arch of sacral vertebra (disorder)

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Incomplete ossification of arch of thoracic vertebra (disorder)

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Incomplete ossification of basioccipital bone (disorder)

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Incomplete ossification of basisphenoid bone (disorder)

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Incomplete ossification of calcaneus (disorder)

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Incomplete ossification of carpal bone (disorder)

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Incomplete ossification of centrum of cervical vertebra (disorder)

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Incomplete ossification of centrum of lumbar vertebra (disorder)

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Incomplete ossification of centrum of sacral vertebra (disorder)

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Incomplete ossification of centrum of thoracic vertebra (disorder)

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Incomplete ossification of clavicle (disorder)

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Incomplete ossification of exoccipital bone (disorder)

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Incomplete ossification of femur (disorder)

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Incomplete ossification of fibula (disorder)

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Incomplete ossification of frontal bone (disorder)

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Incomplete ossification of humerus (disorder)

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Incomplete ossification of hyoid bone (disorder)

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Incomplete ossification of interparietal bone (disorder)

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Incomplete ossification of lacrimal bone (disorder)

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Incomplete ossification of mandible (disorder)

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Incomplete ossification of maxilla (disorder)

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Incomplete ossification of metacarpal bone (disorder)

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Incomplete ossification of metatarsal bone (disorder)

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Incomplete ossification of nasal bone (disorder)

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Incomplete ossification of palatine bone (disorder)

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Incomplete ossification of parietal bone (disorder)

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Incomplete ossification of premaxilla (disorder)

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Incomplete ossification of presphenoid bone (disorder)

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Incomplete ossification of radius (disorder)

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Incomplete ossification of rib (disorder)

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Incomplete ossification of scapula (disorder)

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Incomplete ossification of squamosal bone (disorder)

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Incomplete ossification of sternebra (disorder)

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Incomplete ossification of supraoccipital bone (disorder)

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Incomplete ossification of talus (disorder)

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Incomplete ossification of tarsal bone (disorder)

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Incomplete ossification of tibia (disorder)

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Incomplete ossification of tympanic anulus (disorder)

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Incomplete ossification of ulna (disorder)

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Incomplete ossification of vomer (disorder)

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Incomplete ossification of zygomatic bone (disorder)

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Lack of ossification of alisphenoid bone (disorder)

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Lack of ossification of arch of cervical vertebra (disorder)

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Lack of ossification of arch of lumbar vertebra (disorder)

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Lack of ossification of arch of sacral vertebra (disorder)

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Lack of ossification of arch of thoracic vertebra (disorder)

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Congenital lack of ossification of auditory ossicles (disorder)

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Lack of ossification of basioccipital bone (disorder)

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Lack of ossification of basisphenoid bone (disorder)

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Lack of ossification of calcaneus (disorder)

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Lack of ossification of carpal bone (disorder)

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Lack of ossification of centrum of cervical vertebra (disorder)

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Lack of ossification of centrum of lumbar vertebra (disorder)

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Lack of ossification of centrum of sacral vertebra (disorder)

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Lack of ossification of centrum of thoracic vertebra (disorder)

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Lack of ossification of clavicle (disorder)

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Lack of ossification of exoccipital bone (disorder)

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Lack of ossification of femur (disorder)

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Membranous ventricular septum defect (disorder)

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Congenital duplication of renal collecting system without obstruction (disorder)

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Multiple congenital cardiac defects (disorder)

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Muscular ventricular septum defect (disorder)

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Pure gonadal dysgenesis 46,XX (disorder)

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Pure gonadal dysgenesis 46,XY (disorder)

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Supernumerary arch of cervical vertebra (disorder)

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Supernumerary arch of lumbar vertebra (disorder)

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Supernumerary arch of sacral vertebra (disorder)

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Supernumerary arch of thoracic vertebra (disorder)

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Supernumerary centrum of cervical vertebra (disorder)

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Supernumerary centrum of lumbar vertebra (disorder)

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Supernumerary centrum of sacral vertebra (disorder)

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Supernumerary centrum of thoracic vertebra (disorder)

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Congenital absence of cranial vault (disorder)

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Congenital perforation of nasal septum (disorder)

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Congenital anomaly of digestive tract (disorder)

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Congenital degeneration of nervous system (disorder)

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Congenital pigmentation of lens (disorder)

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Congenital macular corneal dystrophy (disorder)

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Congenital cyst of conjunctiva (disorder)

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Congenital anomaly of choroid (disorder)

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Congenital hypoplasia of choroid (disorder)

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Congenital myelin deficiency of the optic disc (disorder)

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Hypoplasia of the optic nerve (disorder)

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Congenital anomaly of optic nerve (disorder)

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Congenitally small punctum lacrimale (disorder)

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Congenital displacement of punctum lacrimale (disorder)

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Congenital diverticulum of lacrimal canaliculus (disorder)

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Congenital dislocation of radial head (disorder)

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Congenital stenosis of trachea (disorder)

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Hyperphosphatasemia with bone disease (disorder)

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Congenital arteriovenous malformation of the duodenum and jejunum (disorder)

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Congenital dilatation of lobar intrahepatic bile duct with obstruction (disorder)

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Congenital anomaly of cardiovascular system (disorder)