Resource ValueSet/FHIR Server from package us.nlm.vsac#0.21.0 (4578 ms)
Package | us.nlm.vsac |
Type | ValueSet |
Id | Id |
FHIR Version | R4 |
Source | http://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1029.132/expansion |
Url | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1029.132 |
Version | 20240529 |
Status | active |
Date | 2024-05-29T01:02:26-04:00 |
Name | CongenitalMalformations |
Title | Congenital Malformations |
Experimental | False |
Realm | us |
Authority | hl7 |
Purpose | (Clinical Focus: The purpose of this value set is to identify diagnoses of congenital malformations.),(Data Element Scope: This value set may use a model element related to diagnosis.),(Inclusion Criteria: Includes concepts that identify a diagnosis of a congenital malformation.),(Exclusion Criteria: No exclusions.) |
Resources that use this resource
Resources that this resource uses
Source
{
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"id" : "2.16.840.1.113762.1.4.1029.132",
"meta" : {
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"extension" : [
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"url" : "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1029.132",
"identifier" : [
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],
"version" : "20240529",
"name" : "CongenitalMalformations",
"title" : "Congenital Malformations",
"status" : "active",
"date" : "2024-05-29T01:02:26-04:00",
"publisher" : "Joint Commission",
"jurisdiction" : [
{
"coding" : [
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"code" : "US"
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],
"purpose" : "(Clinical Focus: The purpose of this value set is to identify diagnoses of congenital malformations.),(Data Element Scope: This value set may use a model element related to diagnosis.),(Inclusion Criteria: Includes concepts that identify a diagnosis of a congenital malformation.),(Exclusion Criteria: No exclusions.)",
"compose" : {
"include" : [
{
"system" : "http://snomed.info/sct",
"concept" : [
{
"code" : "10007009",
"display" : "Coffin-Siris syndrome (disorder)"
},
{
"code" : "10155006",
"display" : "Bilateral congenital dislocation of hip (disorder)"
},
{
"code" : "10283004",
"display" : "Congenital stenosis of cervical canal (disorder)"
},
{
"code" : "10362008",
"display" : "Accessory spleen (disorder)"
},
{
"code" : "10375008",
"display" : "Extrapulmonary subpleural pulmonary sequestration (disorder)"
},
{
"code" : "103771000119101",
"display" : "Lipoma co-occurrent with spina bifida (disorder)"
},
{
"code" : "10451007",
"display" : "Double aortic arch (disorder)"
},
{
"code" : "105985007",
"display" : "Osteochondrodysplasia syndrome (disorder)"
},
{
"code" : "105986008",
"display" : "Congenital skeletal dysplasia (disorder)"
},
{
"code" : "105989001",
"display" : "Malformation sequence (disorder)"
},
{
"code" : "105992002",
"display" : "Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder)"
},
{
"code" : "10631000",
"display" : "Trilobed left lung (disorder)"
},
{
"code" : "10736081000119101",
"display" : "Congenital atresia of vagina (disorder)"
},
{
"code" : "10736711000119105",
"display" : "Congenital hypoplasia of uterine cervix (disorder)"
},
{
"code" : "10738211000119102",
"display" : "Congenital fistula between uterus and urinary tract (disorder)"
},
{
"code" : "10818008",
"display" : "Congenital malposition of heart (disorder)"
},
{
"code" : "1085291000119101",
"display" : "Cleft hard and soft palate with cleft lip (disorder)"
},
{
"code" : "1085301000119100",
"display" : "Cleft of hard palate and cleft lip (disorder)"
},
{
"code" : "1085331000119107",
"display" : "Cleft palate and bilateral cleft lip (disorder)"
},
{
"code" : "1085341000119103",
"display" : "Cleft of soft palate and bilateral cleft lip (disorder)"
},
{
"code" : "1085351000119101",
"display" : "Cleft of soft palate and cleft lip (disorder)"
},
{
"code" : "1085671000119100",
"display" : "Congenital malformation of larynx and trachea (disorder)"
},
{
"code" : "10930001",
"display" : "Congenital atresia of pulmonary artery (disorder)"
},
{
"code" : "109379000",
"display" : "Traumatic interventricular septal defect (disorder)"
},
{
"code" : "109393007",
"display" : "Otomandibular dysostosis (disorder)"
},
{
"code" : "109394001",
"display" : "Intermandibular dysostosis (disorder)"
},
{
"code" : "109395000",
"display" : "Temporo-auro-mandibular dysostosis (disorder)"
},
{
"code" : "109397008",
"display" : "Temporo-aural dysostosis (disorder)"
},
{
"code" : "109398003",
"display" : "Maxillary dysostosis (disorder)"
},
{
"code" : "109399006",
"display" : "Maxillo-zygomatic dysostosis (disorder)"
},
{
"code" : "109400004",
"display" : "Naso-maxillary dysostosis (disorder)"
},
{
"code" : "109402007",
"display" : "Anterior perimaxillary faciosynostosis (disorder)"
},
{
"code" : "109403002",
"display" : "Complete perimaxillary faciosynostosis (disorder)"
},
{
"code" : "109404008",
"display" : "Posterior perimaxillary faciosynostosis (disorder)"
},
{
"code" : "109406005",
"display" : "Vomero-premaxillary faciosynostosis (disorder)"
},
{
"code" : "109407001",
"display" : "Internasal dysostosis (disorder)"
},
{
"code" : "109408006",
"display" : "Frontal dysostosis (disorder)"
},
{
"code" : "109409003",
"display" : "Interfrontal craniofaciosynostosis (disorder)"
},
{
"code" : "109410008",
"display" : "Fronto-frontal dysostosis (disorder)"
},
{
"code" : "109411007",
"display" : "Fronto-naso-ethmoidal dysostosis (disorder)"
},
{
"code" : "109413005",
"display" : "Fronto-malar faciosynostosis (disorder)"
},
{
"code" : "109414004",
"display" : "Sphenoidal dysostosis (disorder)"
},
{
"code" : "109415003",
"display" : "Spheno-frontal dysostosis (disorder)"
},
{
"code" : "109416002",
"display" : "Spheno-fronto-parietal craniofaciosynostosis (disorder)"
},
{
"code" : "109417006",
"display" : "Parieto-occipital craniosynostosis (disorder)"
},
{
"code" : "109418001",
"display" : "Interparietal craniosynostosis (disorder)"
},
{
"code" : "109419009",
"display" : "Mandibuloacral dysostosis (disorder)"
},
{
"code" : "109420003",
"display" : "Dysostosis (disorder)"
},
{
"code" : "109422006",
"display" : "Accessory cuboid bone (disorder)"
},
{
"code" : "109423001",
"display" : "Accessory navicular bone of foot (disorder)"
},
{
"code" : "109425008",
"display" : "Single right ventricle (disorder)"
},
{
"code" : "109426009",
"display" : "Single left ventricle (disorder)"
},
{
"code" : "109427000",
"display" : "Supracristal ventricular septal defect (disorder)"
},
{
"code" : "109428005",
"display" : "Perimembranous ventricular septal defect (disorder)"
},
{
"code" : "109429002",
"display" : "Single muscular ventricular septum defect (disorder)"
},
{
"code" : "109430007",
"display" : "Multiple muscular ventricular septum defect (disorder)"
},
{
"code" : "109431006",
"display" : "Ebstein-like malformation of mitral valve (disorder)"
},
{
"code" : "109432004",
"display" : "Anomalous cardiac muscle bands (disorder)"
},
{
"code" : "109434003",
"display" : "Congenital anomaly of oral mucosa (disorder)"
},
{
"code" : "109436001",
"display" : "Moon molar teeth (disorder)"
},
{
"code" : "109437005",
"display" : "Exaggerated cusp of tooth (disorder)"
},
{
"code" : "109438000",
"display" : "Exaggerated cingulum of tooth (disorder)"
},
{
"code" : "109440005",
"display" : "False anodontia (disorder)"
},
{
"code" : "109457009",
"display" : "Fusion of crown of teeth (disorder)"
},
{
"code" : "109459007",
"display" : "Enamel spur (disorder)"
},
{
"code" : "109460002",
"display" : "Paired teeth microdontia (disorder)"
},
{
"code" : "109461003",
"display" : "Single tooth microdontia (disorder)"
},
{
"code" : "109462005",
"display" : "Multirooted tooth with divergent roots (disorder)"
},
{
"code" : "109463000",
"display" : "Multirooted tooth with convergent roots (disorder)"
},
{
"code" : "109464006",
"display" : "Lateral accessory root canals (disorder)"
},
{
"code" : "109505006",
"display" : "Crowding of teeth due to supernumerary teeth (disorder)"
},
{
"code" : "109507003",
"display" : "Protrusion of tooth (finding)"
},
{
"code" : "109513007",
"display" : "Congenital mandibular asymmetry (disorder)"
},
{
"code" : "109514001",
"display" : "Congenital maxillary asymmetry (disorder)"
},
{
"code" : "109515000",
"display" : "Congenital retrognathism (disorder)"
},
{
"code" : "109517008",
"display" : "Congenital horizontal mandibular hyperplasia (disorder)"
},
{
"code" : "109518003",
"display" : "Congenital vertical mandibular hyperplasia (disorder)"
},
{
"code" : "109519006",
"display" : "Congenital transverse mandibular hyperplasia (disorder)"
},
{
"code" : "109520000",
"display" : "Congenital alveolar hyperplasia of mandible (disorder)"
},
{
"code" : "109521001",
"display" : "Congenital alveolar hyperplasia of maxilla (disorder)"
},
{
"code" : "109523003",
"display" : "Congenital horizontal mandibular hypoplasia (disorder)"
},
{
"code" : "109524009",
"display" : "Congenital vertical mandibular hypoplasia (disorder)"
},
{
"code" : "109525005",
"display" : "Congenital transverse mandibular hypoplasia (disorder)"
},
{
"code" : "109526006",
"display" : "Congenital alveolar hypoplasia of mandible (disorder)"
},
{
"code" : "109527002",
"display" : "Congenital alveolar hypoplasia of maxilla (disorder)"
},
{
"code" : "109528007",
"display" : "Congenital transverse maxillary hypoplasia (disorder)"
},
{
"code" : "109529004",
"display" : "Congenital vertical maxillary hypoplasia (disorder)"
},
{
"code" : "109532001",
"display" : "Precocious exfoliation due to ectopic eruption of proximate tooth (disorder)"
},
{
"code" : "109545002",
"display" : "Hyperplastic tooth follicle (disorder)"
},
{
"code" : "109546001",
"display" : "Cleft of primary palate (disorder)"
},
{
"code" : "109548000",
"display" : "Bilateral cleft of primary palate (disorder)"
},
{
"code" : "109550008",
"display" : "Congenital commissural pits (disorder)"
},
{
"code" : "109551007",
"display" : "Aberrant insertion of labial frenulum (disorder)"
},
{
"code" : "109553005",
"display" : "Palatal cyst of newborn (disorder)"
},
{
"code" : "109554004",
"display" : "Ectopic oral gastrointestinal cyst (disorder)"
},
{
"code" : "109556002",
"display" : "Aberrant insertion of frenum of tongue (disorder)"
},
{
"code" : "109557006",
"display" : "Congenital anomaly of uvula (disorder)"
},
{
"code" : "109559009",
"display" : "Riedel's lobe of liver (disorder)"
},
{
"code" : "109560004",
"display" : "Cystic testicular dysplasia (disorder)"
},
{
"code" : "109561000",
"display" : "Cerebrofacial dysplasia (disorder)"
},
{
"code" : "10989008",
"display" : "Talipes equinus (disorder)"
},
{
"code" : "110992006",
"display" : "Bifid nail (disorder)"
},
{
"code" : "11102005",
"display" : "Congenital fistula of lip (disorder)"
},
{
"code" : "111030006",
"display" : "Howel-Evans' syndrome (disorder)"
},
{
"code" : "111303009",
"display" : "Sjögren-Larsson syndrome (disorder)"
},
{
"code" : "111306001",
"display" : "Multiple lentigines syndrome (disorder)"
},
{
"code" : "111307005",
"display" : "Leprechaunism syndrome (disorder)"
},
{
"code" : "111315008",
"display" : "Longitudinal deficiency of tibia AND/OR fibula (disorder)"
},
{
"code" : "111317000",
"display" : "Congenital absence of nose (disorder)"
},
{
"code" : "111318005",
"display" : "Congenital cystic adenomatoid malformation of lung (disorder)"
},
{
"code" : "111319002",
"display" : "Truncus arteriosus, Edwards' type IV (disorder)"
},
{
"code" : "111321007",
"display" : "Right aortic arch (disorder)"
},
{
"code" : "111322000",
"display" : "Congenital anomaly of pulmonary veins (disorder)"
},
{
"code" : "111323005",
"display" : "Total anomalous pulmonary venous return (disorder)"
},
{
"code" : "111324004",
"display" : "Congenital absence of breast (disorder)"
},
{
"code" : "111325003",
"display" : "Horner's teeth (disorder)"
},
{
"code" : "111328001",
"display" : "Congenital diverticulum of pharynx (disorder)"
},
{
"code" : "111329009",
"display" : "Congenital prolapsed rectum (disorder)"
},
{
"code" : "111330004",
"display" : "Congenital rectovaginal fistula (disorder)"
},
{
"code" : "111331000",
"display" : "Congenital dilatation of lobar intrahepatic bile duct (disorder)"
},
{
"code" : "111332007",
"display" : "Male pseudohermaphroditism (disorder)"
},
{
"code" : "111334008",
"display" : "Embryonic cyst of epoophoron (disorder)"
},
{
"code" : "111335009",
"display" : "Congenital absence of vulva (disorder)"
},
{
"code" : "111336005",
"display" : "Congenital lateral curvature of penis (disorder)"
},
{
"code" : "111337001",
"display" : "Dyke-Davidoff-Masson syndrome (disorder)"
},
{
"code" : "111338006",
"display" : "Agenesis of nerve (disorder)"
},
{
"code" : "111341002",
"display" : "Cephalodiprosopus (disorder)"
},
{
"code" : "111388003",
"display" : "Cutis laxa, autosomal dominant (disorder)"
},
{
"code" : "111389006",
"display" : "Dominant dystrophic epidermolysis bullosa (disorder)"
},
{
"code" : "111396008",
"display" : "Chédiak-Higashi syndrome (disorder)"
},
{
"code" : "11144004",
"display" : "Congenital stricture of osseous meatus of middle ear (disorder)"
},
{
"code" : "111501005",
"display" : "Congenital hereditary muscular dystrophy (disorder)"
},
{
"code" : "111502003",
"display" : "Fukuyama congenital muscular dystrophy (disorder)"
},
{
"code" : "111503008",
"display" : "Merosin deficient congenital muscular dystrophy (disorder)"
},
{
"code" : "111504002",
"display" : "Walker-Warburg congenital muscular dystrophy (disorder)"
},
{
"code" : "111505001",
"display" : "Muscle-eye-brain disease, congenital muscular dystrophy (disorder)"
},
{
"code" : "111506000",
"display" : "Distal muscular dystrophy, Miyoshi type (disorder)"
},
{
"code" : "111508004",
"display" : "Emery-Dreifuss muscular dystrophy (disorder)"
},
{
"code" : "11160000",
"display" : "Brown oculocutaneous albinism (disorder)"
},
{
"code" : "111631000119106",
"display" : "Congenital dilatation of renal pelvis (disorder)"
},
{
"code" : "111641000119102",
"display" : "Congenital choroid plexus cyst (disorder)"
},
{
"code" : "11194003",
"display" : "Congenital anomaly of anus (disorder)"
},
{
"code" : "11197005",
"display" : "Hydromyelia (disorder)"
},
{
"code" : "11211000119108",
"display" : "Congenital anomaly of pupil (disorder)"
},
{
"code" : "11223009",
"display" : "Congenital anomaly of pharynx (disorder)"
},
{
"code" : "112751000119103",
"display" : "Congenital superior sulcus anomaly of orbit (disorder)"
},
{
"code" : "1131009",
"display" : "Congenital valvular insufficiency (disorder)"
},
{
"code" : "11378000",
"display" : "Persistent urogenital sinus (disorder)"
},
{
"code" : "1141000119101",
"display" : "Congenital labial adhesion (disorder)"
},
{
"code" : "11433004",
"display" : "Congenital coronary artery fistula (disorder)"
},
{
"code" : "1150009",
"display" : "Congenital microcheilia (disorder)"
},
{
"code" : "11614003",
"display" : "Congenital stenosis of pulmonary veins (disorder)"
},
{
"code" : "11646003",
"display" : "Congenital inversion of nipple (disorder)"
},
{
"code" : "11701009",
"display" : "Hemicephaly (disorder)"
},
{
"code" : "11731003",
"display" : "Neck webbing (disorder)"
},
{
"code" : "118642009",
"display" : "Congenital anomaly of the urinary tract proper (disorder)"
},
{
"code" : "12017008",
"display" : "Congenital absence of ovary (disorder)"
},
{
"code" : "12070002",
"display" : "Congenital stenosis of larynx (disorder)"
},
{
"code" : "12075007",
"display" : "Congenital hypoplasia of ascending aorta (disorder)"
},
{
"code" : "12104008",
"display" : "Congenital rectocloacal fistula (disorder)"
},
{
"code" : "12235781000119107",
"display" : "Congenital hammer toe of left foot (disorder)"
},
{
"code" : "12235821000119102",
"display" : "Congenital hammer toe of right foot (disorder)"
},
{
"code" : "12252009",
"display" : "Congenital absence of sternum (disorder)"
},
{
"code" : "12275031000119106",
"display" : "Congenital cerebral ventriculomegaly (disorder)"
},
{
"code" : "12316007",
"display" : "Persistent fetal uterus (disorder)"
},
{
"code" : "1232006",
"display" : "Congenital articular rigidity with myopathy (disorder)"
},
{
"code" : "12322003",
"display" : "Congenital eventration of left crus of diaphragm (disorder)"
},
{
"code" : "12351004",
"display" : "Crowding of teeth (disorder)"
},
{
"code" : "123557007",
"display" : "Congenital anomaly of scapula (disorder)"
},
{
"code" : "123558002",
"display" : "Congenital anomaly of humerus (disorder)"
},
{
"code" : "123559005",
"display" : "Congenital anomaly of radius (disorder)"
},
{
"code" : "123560000",
"display" : "Congenital anomaly of ulna (disorder)"
},
{
"code" : "123561001",
"display" : "Congenital anomaly of femur (disorder)"
},
{
"code" : "123562008",
"display" : "Congenital anomaly of fibula (disorder)"
},
{
"code" : "123563003",
"display" : "Congenital anomaly of tibia (disorder)"
},
{
"code" : "123566006",
"display" : "Congenital anomaly of calcaneus (disorder)"
},
{
"code" : "123568007",
"display" : "Congenital anomaly of tarsal bone (disorder)"
},
{
"code" : "123569004",
"display" : "Congenital anomaly of metatarsal bone (disorder)"
},
{
"code" : "123570003",
"display" : "Congenital anomaly of carpal bone (disorder)"
},
{
"code" : "123571004",
"display" : "Congenital anomaly of metacarpal bone (disorder)"
},
{
"code" : "123572006",
"display" : "Congenital anomaly of rib (disorder)"
},
{
"code" : "123654008",
"display" : "Congenital anomaly of lower respiratory system (disorder)"
},
{
"code" : "123655009",
"display" : "Accessory structure of lower respiratory tract (disorder)"
},
{
"code" : "123656005",
"display" : "Congenital atresia of cardiac valve (disorder)"
},
{
"code" : "123658006",
"display" : "Congenital cleft of cardiac valve (disorder)"
},
{
"code" : "123660008",
"display" : "Dextrorotation of heart (disorder)"
},
{
"code" : "123661007",
"display" : "Levoatrial cardinal vein (disorder)"
},
{
"code" : "123662000",
"display" : "Persistent dorsal mesentery (disorder)"
},
{
"code" : "123666002",
"display" : "Rudimentary uterus in male (disorder)"
},
{
"code" : "1239002",
"display" : "Congenital anteversion of femur (finding)"
},
{
"code" : "124214007",
"display" : "Deficiency of steroid 11-beta-monooxygenase (disorder)"
},
{
"code" : "124220008",
"display" : "Deficiency of steroid 17-alpha-monooxygenase (disorder)"
},
{
"code" : "12458006",
"display" : "Congenital macrognathism (disorder)"
},
{
"code" : "125963005",
"display" : "Patent ductus arteriosus with left-to-right shunt (disorder)"
},
{
"code" : "125964004",
"display" : "Patent ductus arteriosus with right-to-left shunt (disorder)"
},
{
"code" : "1264194006",
"display" : "Congenital amyoplasia (disorder)"
},
{
"code" : "12674005",
"display" : "Multiple malformation syndrome with senile-like appearance (disorder)"
},
{
"code" : "126762003",
"display" : "Talocalcaneal coalition (disorder)"
},
{
"code" : "126764002",
"display" : "Congenital anomaly of intestinal tract (disorder)"
},
{
"code" : "1271009",
"display" : "Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)"
},
{
"code" : "12721007",
"display" : "Trifid tongue (disorder)"
},
{
"code" : "127328006",
"display" : "Congenital absence of skeletal bone (disorder)"
},
{
"code" : "127329003",
"display" : "Congenital anomaly of visual system (disorder)"
},
{
"code" : "127551000119100",
"display" : "Congenital hypoplasia of brain (disorder)"
},
{
"code" : "12770006",
"display" : "Cyanotic congenital heart disease (disorder)"
},
{
"code" : "127701000119109",
"display" : "Congenital positive ulnar variant of wrist (disorder)"
},
{
"code" : "128062001",
"display" : "Congenital portal-systemic shunt (disorder)"
},
{
"code" : "128063006",
"display" : "Congenital extrahepatic portal-systemic shunt (disorder)"
},
{
"code" : "128064000",
"display" : "Congenital absence of portal vein (disorder)"
},
{
"code" : "128065004",
"display" : "Congenital partial portal-systemic shunt (disorder)"
},
{
"code" : "128066003",
"display" : "Congenital splenorenal shunt (disorder)"
},
{
"code" : "128067007",
"display" : "Congenital intrahepatic portal-systemic shunt (disorder)"
},
{
"code" : "128082002",
"display" : "Duane's syndrome, type 1 (disorder)"
},
{
"code" : "128083007",
"display" : "Duane's syndrome, type 2 (disorder)"
},
{
"code" : "128084001",
"display" : "Duane's syndrome, type 3 (disorder)"
},
{
"code" : "128124001",
"display" : "Congenital anomaly of central nervous system (disorder)"
},
{
"code" : "128219005",
"display" : "Dysostosis of bone of skull (disorder)"
},
{
"code" : "128274005",
"display" : "Congenital anomaly of nose (disorder)"
},
{
"code" : "128275006",
"display" : "Congenital anomaly of nasal sinuses (disorder)"
},
{
"code" : "128327004",
"display" : "Congenital anomaly of ocular adnexa (disorder)"
},
{
"code" : "128332003",
"display" : "Congenital anomaly of digestive organ (disorder)"
},
{
"code" : "128334002",
"display" : "Congenital anomaly of mouth (disorder)"
},
{
"code" : "128335001",
"display" : "Congenital anomaly of duodenum (disorder)"
},
{
"code" : "128336000",
"display" : "Congenital anomaly of palate (disorder)"
},
{
"code" : "128346003",
"display" : "Congenital anomaly of peritoneum (disorder)"
},
{
"code" : "128347007",
"display" : "Congenital anomaly of gastrointestinal tract (disorder)"
},
{
"code" : "128352002",
"display" : "Congenital anomaly of cornea (disorder)"
},
{
"code" : "128353007",
"display" : "Congenital anomaly of lens (disorder)"
},
{
"code" : "128533009",
"display" : "Micropapilla (disorder)"
},
{
"code" : "128534003",
"display" : "Congenital anomaly of posterior segment of eye (disorder)"
},
{
"code" : "128544001",
"display" : "Congenital anomaly of talus (disorder)"
},
{
"code" : "128555001",
"display" : "Congenital coronary artery fistula to left atrium (disorder)"
},
{
"code" : "128556000",
"display" : "Congenital coronary artery fistula to left ventricle (disorder)"
},
{
"code" : "128557009",
"display" : "Congenital coronary artery fistula to right atrium (disorder)"
},
{
"code" : "128558004",
"display" : "Congenital coronary artery fistula to right ventricle (disorder)"
},
{
"code" : "128563000",
"display" : "Juxtaposed atrial appendage (disorder)"
},
{
"code" : "128566008",
"display" : "Congenital pulmonary vein confluence (disorder)"
},
{
"code" : "128567004",
"display" : "Congenital pulmonary venous atrium (disorder)"
},
{
"code" : "128568009",
"display" : "Congenital systemic venous atrium (disorder)"
},
{
"code" : "128584005",
"display" : "Congenital pulmonary artery conduit (disorder)"
},
{
"code" : "1287007",
"display" : "Congenital absence of bile duct (disorder)"
},
{
"code" : "12897005",
"display" : "Congenital stricture of ureteropelvic junction (disorder)"
},
{
"code" : "128985003",
"display" : "Congenital anomaly of iris (disorder)"
},
{
"code" : "129582000",
"display" : "Congenital coronary artery fistula to pulmonary artery (disorder)"
},
{
"code" : "129621001",
"display" : "Nemaline myopathy, early onset type (disorder)"
},
{
"code" : "129622008",
"display" : "Nemaline myopathy, late onset type (disorder)"
},
{
"code" : "13059002",
"display" : "Congenital ichthyosis of skin (disorder)"
},
{
"code" : "13213009",
"display" : "Congenital heart disease (disorder)"
},
{
"code" : "13262009",
"display" : "Synechia vulvae (disorder)"
},
{
"code" : "13280000",
"display" : "Femoral hypoplasia - unusual facies syndrome (disorder)"
},
{
"code" : "13282008",
"display" : "Congenital corneal opacity interfering with vision (disorder)"
},
{
"code" : "13401001",
"display" : "Ablepharon (disorder)"
},
{
"code" : "134219008",
"display" : "Os trigonum (disorder)"
},
{
"code" : "13449007",
"display" : "Melnick-Needles syndrome (disorder)"
},
{
"code" : "13453009",
"display" : "Anomalous muscle bands of left ventricle (disorder)"
},
{
"code" : "13499006",
"display" : "Congenital anomaly of lacrimal system (disorder)"
},
{
"code" : "13530005",
"display" : "Congenital lobulation of kidney (disorder)"
},
{
"code" : "13568007",
"display" : "Congenital duplication of stomach (disorder)"
},
{
"code" : "13624003",
"display" : "Congenital cleft hand (disorder)"
},
{
"code" : "13630003",
"display" : "Congenital absence of lobe of liver (disorder)"
},
{
"code" : "13671009",
"display" : "Congenital stricture of urethra (disorder)"
},
{
"code" : "13689005",
"display" : "Congenital anomaly of aortic valve (disorder)"
},
{
"code" : "1372004",
"display" : "Uterus unicornis (disorder)"
},
{
"code" : "13806003",
"display" : "Congenital anomaly of urethra (disorder)"
},
{
"code" : "13867009",
"display" : "Preductal coarctation of aorta (disorder)"
},
{
"code" : "1393001",
"display" : "Lenz-Majewski hyperostosis syndrome (disorder)"
},
{
"code" : "14061004",
"display" : "Derencephalus (disorder)"
},
{
"code" : "14178006",
"display" : "Double renal pelvis (disorder)"
},
{
"code" : "1418007",
"display" : "Hypoplastic chondrodystrophy (disorder)"
},
{
"code" : "142191000119104",
"display" : "Congenital transverse septate vagina (disorder)"
},
{
"code" : "142201000119101",
"display" : "Congenital longitudinal septate vagina (disorder)"
},
{
"code" : "14365001",
"display" : "Congenital prolapse of urinary bladder (disorder)"
},
{
"code" : "14430002",
"display" : "Congenital stenosis of small intestine (disorder)"
},
{
"code" : "14447001",
"display" : "Dandy-Walker syndrome (disorder)"
},
{
"code" : "14482000",
"display" : "Anomalous origin of right subclavian artery (disorder)"
},
{
"code" : "14532008",
"display" : "Congenital anomaly of trachea (disorder)"
},
{
"code" : "14552009",
"display" : "Vestigial remnants of canal of Cloquet (disorder)"
},
{
"code" : "14582003",
"display" : "Microstomia (disorder)"
},
{
"code" : "14689000",
"display" : "Uterus cordiformis (disorder)"
},
{
"code" : "14870002",
"display" : "Achondrogenesis, type IB (disorder)"
},
{
"code" : "14886009",
"display" : "Abdominal heart (disorder)"
},
{
"code" : "1492007",
"display" : "Congenital anomaly of large intestine (disorder)"
},
{
"code" : "14921002",
"display" : "Aarskog syndrome (disorder)"
},
{
"code" : "15069006",
"display" : "Russell-Silver syndrome (disorder)"
},
{
"code" : "15080006",
"display" : "Myotubular myopathy with type I atrophy (disorder)"
},
{
"code" : "15096009",
"display" : "Congenital insufficiency of pulmonary valve (disorder)"
},
{
"code" : "1512006",
"display" : "Congenital stricture of bile duct (disorder)"
},
{
"code" : "15135007",
"display" : "Congenital transposition of stomach (disorder)"
},
{
"code" : "15182000",
"display" : "Coffin-Lowry syndrome (disorder)"
},
{
"code" : "1519002",
"display" : "Congenital phlebectasia (disorder)"
},
{
"code" : "15191001",
"display" : "Origin of innominate artery from left side of aortic arch (disorder)"
},
{
"code" : "1538006",
"display" : "Central nervous system malformation in fetus affecting obstetrical care (disorder)"
},
{
"code" : "15419008",
"display" : "Congenital pyloric membrane (disorder)"
},
{
"code" : "1542009",
"display" : "Omphalocele with obstruction (disorder)"
},
{
"code" : "15453007",
"display" : "Congenital dislocation of knee with genu recurvatum (disorder)"
},
{
"code" : "15459006",
"display" : "Endocardial cushion defect (disorder)"
},
{
"code" : "15545001",
"display" : "Congenital duplication of uterus (disorder)"
},
{
"code" : "15552004",
"display" : "Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)"
},
{
"code" : "15557005",
"display" : "First arch syndrome (disorder)"
},
{
"code" : "15582005",
"display" : "Congenital absence of lobe of lung (disorder)"
},
{
"code" : "15665001000119108",
"display" : "Congenital anomaly of right sternocleidomastoid muscle (disorder)"
},
{
"code" : "15665121000119103",
"display" : "Epiblepharon of right eye (disorder)"
},
{
"code" : "15665161000119108",
"display" : "Epiblepharon of left eye (disorder)"
},
{
"code" : "15665561000119100",
"display" : "Anophthalmos of left eye (disorder)"
},
{
"code" : "15665681000119108",
"display" : "Congenital coloboma of iris of right eye (disorder)"
},
{
"code" : "15665721000119102",
"display" : "Congenital coloboma of bilateral irides (disorder)"
},
{
"code" : "15665761000119107",
"display" : "Congenital coloboma of iris of left eye (disorder)"
},
{
"code" : "15665961000119105",
"display" : "Tarsal coalition of right foot (disorder)"
},
{
"code" : "15666001000119102",
"display" : "Tarsal coalition of left foot (disorder)"
},
{
"code" : "15666041000119100",
"display" : "Accessory left rib (disorder)"
},
{
"code" : "15666641000119107",
"display" : "Accessory tarsal bone of right foot (disorder)"
},
{
"code" : "15667081000119108",
"display" : "Radioulnar synostosis of left arm (disorder)"
},
{
"code" : "15667121000119105",
"display" : "Radioulnar synostosis of right arm (disorder)"
},
{
"code" : "15667521000119103",
"display" : "Congenital bowing of right tibia and fibula (disorder)"
},
{
"code" : "15667561000119108",
"display" : "Congenital bowing of left tibia and fibula (disorder)"
},
{
"code" : "15667761000119101",
"display" : "Congenital coxa vara of left hip (disorder)"
},
{
"code" : "15667801000119109",
"display" : "Congenital coxa vara of right hip (disorder)"
},
{
"code" : "15667881000119101",
"display" : "Congenital deformity of right hip joint (disorder)"
},
{
"code" : "15667921000119108",
"display" : "Congenital deformity of left hip joint (disorder)"
},
{
"code" : "15667961000119103",
"display" : "Congenital talipes equinovarus of bilateral feet (disorder)"
},
{
"code" : "15668001000119101",
"display" : "Congenital talipes equinovarus of left foot (disorder)"
},
{
"code" : "15668041000119104",
"display" : "Talipes calcaneovarus of right foot (disorder)"
},
{
"code" : "15668081000119109",
"display" : "Talipes calcaneovarus of left foot (disorder)"
},
{
"code" : "15668201000119106",
"display" : "Talipes varus of left foot (disorder)"
},
{
"code" : "15668241000119108",
"display" : "Talipes varus of right foot (disorder)"
},
{
"code" : "15668441000119109",
"display" : "Talipes calcaneovalgus of right foot (disorder)"
},
{
"code" : "15668481000119104",
"display" : "Talipes calcaneovalgus of left foot (disorder)"
},
{
"code" : "15668561000119109",
"display" : "Talipes valgus of left foot (disorder)"
},
{
"code" : "15668601000119109",
"display" : "Talipes valgus of right foot (disorder)"
},
{
"code" : "15668681000119101",
"display" : "Congenital talipes equinovarus of right foot (disorder)"
},
{
"code" : "15668801000119105",
"display" : "Congenital deformity of right hand (disorder)"
},
{
"code" : "15668921000119109",
"display" : "Congenital deformity of left hand (disorder)"
},
{
"code" : "15668961000119104",
"display" : "Congenital deformity of left knee joint (disorder)"
},
{
"code" : "15669121000119101",
"display" : "Transverse deficiency of right upper limb (disorder)"
},
{
"code" : "15669161000119106",
"display" : "Transverse deficiency of left upper limb (disorder)"
},
{
"code" : "15669441000119103",
"display" : "Congenital absence of entire right hand (disorder)"
},
{
"code" : "15669521000119108",
"display" : "Congenital absence of left upper limb (disorder)"
},
{
"code" : "15669561000119103",
"display" : "Congenital absence of right upper limb (disorder)"
},
{
"code" : "15669761000119105",
"display" : "Talipes of right foot (disorder)"
},
{
"code" : "15669801000119102",
"display" : "Talipes of left foot (disorder)"
},
{
"code" : "15669961000119108",
"display" : "Congenital dislocation of head of left radius (disorder)"
},
{
"code" : "15670001000119108",
"display" : "Congenital dislocation of head of right radius (disorder)"
},
{
"code" : "15670161000119108",
"display" : "Congenital elevation of left scapula (disorder)"
},
{
"code" : "15670241000119101",
"display" : "Congenital elevation of right scapula (disorder)"
},
{
"code" : "15670521000119105",
"display" : "Congenital genu valgum of left knee (disorder)"
},
{
"code" : "15670561000119100",
"display" : "Congenital genu valgum of right knee (disorder)"
},
{
"code" : "15670601000119100",
"display" : "Congenital genu valgum of bilateral knees (disorder)"
},
{
"code" : "15670641000119103",
"display" : "Congenital dislocation of right patella (disorder)"
},
{
"code" : "15670681000119108",
"display" : "Congenital dislocation of left patella (disorder)"
},
{
"code" : "15670801000119104",
"display" : "Congenital dislocation of left knee (disorder)"
},
{
"code" : "15670881000119107",
"display" : "Congenital genu varum of bilateral knees (disorder)"
},
{
"code" : "15671007",
"display" : "Encephalocele of orbit (disorder)"
},
{
"code" : "15671041000119100",
"display" : "Congenital genu recurvatum of left knee (disorder)"
},
{
"code" : "15671121000119107",
"display" : "Congenital genu recurvatum of right knee (disorder)"
},
{
"code" : "15671201000119107",
"display" : "Congenital exotropia of right eye (disorder)"
},
{
"code" : "15671241000119109",
"display" : "Congenital exotropia of left eye (disorder)"
},
{
"code" : "15671681000119102",
"display" : "Macrodactyly of toe of right foot (disorder)"
},
{
"code" : "15671721000119108",
"display" : "Macrodactyly of toe of left foot (disorder)"
},
{
"code" : "15671801000119106",
"display" : "Congenital clinodactyly of little finger of bilateral hands (disorder)"
},
{
"code" : "15671841000119108",
"display" : "Congenital clinodactyly of little finger of left hand (disorder)"
},
{
"code" : "15671881000119103",
"display" : "Congenital clinodactyly of little finger of right hand (disorder)"
},
{
"code" : "15671921000119105",
"display" : "Camptodactyly of bilateral hands (disorder)"
},
{
"code" : "15671961000119100",
"display" : "Camptodactyly of left hand (disorder)"
},
{
"code" : "15672001000119109",
"display" : "Camptodactyly of right hand (disorder)"
},
{
"code" : "15715321000119108",
"display" : "Congenital bilateral internal tibial torsion (finding)"
},
{
"code" : "15715361000119103",
"display" : "Congenital internal torsion of tibia of right lower limb (disorder)"
},
{
"code" : "15715401000119107",
"display" : "Congenital internal torsion of tibia of left lower limb (disorder)"
},
{
"code" : "15788006",
"display" : "Congenital cleft thyroid cartilage (disorder)"
},
{
"code" : "15796001",
"display" : "Maxillary prognathism (disorder)"
},
{
"code" : "15843004",
"display" : "Congenital absence of vertebra (disorder)"
},
{
"code" : "15864131000119107",
"display" : "Congenital anomaly of left ear (disorder)"
},
{
"code" : "15864171000119105",
"display" : "Congenital anomaly of right ear (disorder)"
},
{
"code" : "15864291000119103",
"display" : "Congenital atresia of right external ear (disorder)"
},
{
"code" : "15890002",
"display" : "Albinism (disorder)"
},
{
"code" : "15969009",
"display" : "Desmiognathus (disorder)"
},
{
"code" : "16026008",
"display" : "Congenital cerebellar hypoplasia (disorder)"
},
{
"code" : "16095003",
"display" : "Heterodymus (disorder)"
},
{
"code" : "16297002",
"display" : "Congenital hydronephrosis (disorder)"
},
{
"code" : "16376000",
"display" : "Congenital duodenal stenosis (disorder)"
},
{
"code" : "16507009",
"display" : "Ectopic kidney (disorder)"
},
{
"code" : "16512005",
"display" : "Congenital absence of membranous labyrinth (disorder)"
},
{
"code" : "165185004",
"display" : "Dermatoglyphs - skin lines (disorder)"
},
{
"code" : "16567006",
"display" : "Mesocardia (disorder)"
},
{
"code" : "16585004",
"display" : "Congenital spade-like hand (disorder)"
},
{
"code" : "16603000",
"display" : "Talipomanus (disorder)"
},
{
"code" : "16856000",
"display" : "Longitudinal deficiency of humerus (disorder)"
},
{
"code" : "16904009",
"display" : "Incomplete congenital absence of thigh AND leg (disorder)"
},
{
"code" : "1694004",
"display" : "Accessory lobe of lung (disorder)"
},
{
"code" : "17024001",
"display" : "Aortopulmonary window (disorder)"
},
{
"code" : "17025000",
"display" : "Vascular Ehlers-Danlos syndrome (disorder)"
},
{
"code" : "17128000",
"display" : "Congenital eventration of diaphragm (disorder)"
},
{
"code" : "17142008",
"display" : "Congenital absence of uterus (disorder)"
},
{
"code" : "17144009",
"display" : "Fibrochondrogenesis (disorder)"
},
{
"code" : "17170005",
"display" : "Pili torti (disorder)"
},
{
"code" : "17190001",
"display" : "Congenital diaphragmatic hernia (disorder)"
},
{
"code" : "172069000",
"display" : "Congenital meningocele (disorder)"
},
{
"code" : "17268007",
"display" : "Congenital clinodactyly (disorder)"
},
{
"code" : "17337006",
"display" : "Double artery (disorder)"
},
{
"code" : "17394001",
"display" : "Ebstein's anomaly with atrial septal defect (disorder)"
},
{
"code" : "17422006",
"display" : "Ectopic thymic tissue (disorder)"
},
{
"code" : "1744008",
"display" : "Fusion of teeth (disorder)"
},
{
"code" : "17471001",
"display" : "Polyorchism (disorder)"
},
{
"code" : "17480001",
"display" : "Atresia of pupil (disorder)"
},
{
"code" : "17484005",
"display" : "Sacralization of lumbar vertebra (disorder)"
},
{
"code" : "17527002",
"display" : "Overriding skull bones (disorder)"
},
{
"code" : "17568006",
"display" : "Sclerosteosis (disorder)"
},
{
"code" : "17601009",
"display" : "Congenital subluxation of carpus (disorder)"
},
{
"code" : "17608003",
"display" : "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)"
},
{
"code" : "1769008",
"display" : "Thoracodidymus (disorder)"
},
{
"code" : "17718000",
"display" : "Ostium primum defect (disorder)"
},
{
"code" : "1779005",
"display" : "Mohr syndrome (disorder)"
},
{
"code" : "17808001",
"display" : "Azygos lobe of lung (disorder)"
},
{
"code" : "17818006",
"display" : "Leri-Weill dyschondrosteosis (disorder)"
},
{
"code" : "17827007",
"display" : "Cross syndrome (disorder)"
},
{
"code" : "18077009",
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"code" : "18132009",
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"code" : "18166000",
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"code" : "18241005",
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"code" : "18417009",
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"code" : "1856001",
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"code" : "18620009",
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"code" : "18735004",
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"code" : "18749008",
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"code" : "18756002",
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"code" : "18792003",
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"code" : "18820007",
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"code" : "18821006",
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"code" : "18822004",
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"code" : "18899000",
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"code" : "18910001",
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"code" : "1896004",
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"code" : "19042000",
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"code" : "19092004",
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"code" : "190995003",
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"code" : "191329002",
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"code" : "19133005",
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"code" : "1922008",
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"code" : "19249002",
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"code" : "1926006",
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"code" : "19276002",
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"code" : "19416009",
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"code" : "19523008",
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"code" : "1955003",
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"code" : "196407001",
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"code" : "1967001",
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"code" : "196856007",
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"code" : "19886006",
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"code" : "20136007",
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"code" : "201698009",
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"code" : "20392000",
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"code" : "203923004",
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"code" : "203928008",
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"code" : "203935000",
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"code" : "203941007",
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"code" : "203942000",
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"code" : "203943005",
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"code" : "203944004",
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"code" : "203946002",
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"code" : "203948001",
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"code" : "203949009",
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"code" : "203950009",
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"code" : "203951008",
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"code" : "203954000",
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"code" : "203955004",
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"code" : "203957007",
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"code" : "203981000",
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"code" : "203996001",
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"code" : "203997005",
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"code" : "204010001",
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"code" : "204138006",
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{
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