ValueSet-2.16.840.1.113762.1.4.1029.132

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)