Australian Digital Health Agency FHIR Implementation Guide, published by Australian Digital Health Agency. This guide is not an authorized publication; it is the continuous build for version 1.2.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/AuDigitalHealth/ci-fhir-r4/ and changes regularly. See the Directory of published versions

ValueSet: Congenital Abnormality (Experimental)

Official URL: http://ns.electronichealth.net.au/fhir/ValueSet/congenitalabnormality-1 Version: 0.1.0
Draft as of 2024-12-19 Computable Name: CongenitalAbnormality

Copyright/Legal: This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement

The Congenital Abnormality value set includes values that cover common anomalies, including malformations, that are present at birth.

NOTE: The current filter is probably too broard.

References

Logical Definition (CLD)

Generated Narrative: ValueSet congenitalabnormality-1

 

Expansion

Generated Narrative: ValueSet

Expansion based on SNOMED CT Australian edition 30-Nov 2024

This value set contains 1,000 concepts

CodeSystemDisplay
  778007004http://snomed.info/sct12p12.1 microdeletion syndrome
  771439009http://snomed.info/sct14q22q23 microdeletion syndrome
  699254009http://snomed.info/sct15q13.3 microdeletion
  699308002http://snomed.info/sct15q24 microdeletion
  733518000http://snomed.info/sct16p11.2p12.2 microduplication syndrome
  768471006http://snomed.info/sct16p12.2 microdeletion syndrome
  719582007http://snomed.info/sct17p13.3 microduplication syndrome
  733519008http://snomed.info/sct17q12 microdeletion syndrome
  1228844002http://snomed.info/sct1p35.2 microdeletion syndrome
  719658006http://snomed.info/sct2q24 microdeletion syndrome
  719659003http://snomed.info/sct2q32q33 microdeletion syndrome
  733637001http://snomed.info/sct3-phosphoglycerate dehydrogenase deficiency infantile form
  733636005http://snomed.info/sct3-phosphoglycerate dehydrogenase deficiency juvenile form
  720756005http://snomed.info/sct3MC syndrome
  890123006http://snomed.info/sct3p25.3 deletion syndrome
  90866007http://snomed.info/sct3q partial trisomy syndrome
  880127005http://snomed.info/sct46,XX androgen-induced disorder of sex development of iatrogenic maternal origin
  733622000http://snomed.info/sct46,XX disorder of sex development with anorectal anomalies syndrome
  1237345002http://snomed.info/sct46,XX ovarian dysgenesis, short stature syndrome
  1251452003http://snomed.info/sct4q25 proximal deletion syndrome
  719666002http://snomed.info/sct6q terminal deletion syndrome
  890127007http://snomed.info/sct7p21.1 deletion syndrome
  719646006http://snomed.info/sct8p11.2 deletion syndrome
  718615003http://snomed.info/sct8q21.11 microdeletion syndrome
  764725008http://snomed.info/sct9p13 microdeletion syndrome
  718576001http://snomed.info/sctAase Smith type 1 syndrome
  311808009http://snomed.info/sctAberrant retro-esophageal subclavian artery causing dysphagia
  718575002http://snomed.info/sctAblepharon macrostomia syndrome
  95469008http://snomed.info/sctAbnormal plantar creases
  253444004http://snomed.info/sctAbnormality of common atrioventricular valve chordae tendinae
  449133000http://snomed.info/sctAbsence of pulmonary valve cusp
  253143001http://snomed.info/sctAbsence of septum pellucidum
  253312004http://snomed.info/sctAbsent bridging vein
  253392000http://snomed.info/sctAbsent tricuspid papillary muscle
  109422006http://snomed.info/sctAccessory cuboid bone
  58670006http://snomed.info/sctAccessory lacrimal gland disorder
  91847004http://snomed.info/sctAccessory sternebral ossification site
  24358005http://snomed.info/sctAccessory thymic tissue
  253584005http://snomed.info/sctAccessory tissue on truncal valve cusp
  718573009http://snomed.info/sctAchalasia microcephaly syndrome
  42725006http://snomed.info/sctAchondrogenesis, type IA
  14870002http://snomed.info/sctAchondrogenesis, type IB
  254061001http://snomed.info/sctAchondrogenesis, type II
  773773006http://snomed.info/sctAcrodysplasia scoliosis
  720430002http://snomed.info/sctAcrofacial dysostosis Rodriguez type
  720458005http://snomed.info/sctAcrorenal syndrome
  1153415008http://snomed.info/sctAcute splenic sequestration due to sickle cell haemoglobin C disease with crisis
  253879006http://snomed.info/sctAdult type polycystic kidney disease type 2
  360434004http://snomed.info/sctAganglionosis of Auerbach's plexus
  1003571002http://snomed.info/sctAgenesis of calcaneus
  1163556006http://snomed.info/sctAgenesis of cervical vertebra
  1003564007http://snomed.info/sctAgenesis of clitoris
  205223007http://snomed.info/sctAgenesis of fifth metatarsal
  205225000http://snomed.info/sctAgenesis of fourth and fifth metatarsals
  722004001http://snomed.info/sctAgenesis of internal carotid artery
  1003507002http://snomed.info/sctAgenesis of lobe of lung
  253965002http://snomed.info/sctAgenesis of multiple metatarsal bones
  205221009http://snomed.info/sctAgenesis of multiple tarsal bones
  1003577003http://snomed.info/sctAgenesis of nasal bone
  1003578008http://snomed.info/sctAgenesis of premaxilla
  204208005http://snomed.info/sctAgenesis of punctum lacrimale
  1003551006http://snomed.info/sctAgenesis of spleen
  876853002http://snomed.info/sctAgenesis of tarsal bone and metatarsal bone
  1003550007http://snomed.info/sctAgenesis of thymus
  204867009http://snomed.info/sctAgenesis of vulva
  205817005http://snomed.info/sctAglossia-adactyly syndrome
  265569002http://snomed.info/sctAland eye disease and ocular albinism
  879937000http://snomed.info/sctAlpha-N-acetylgalactosaminidase deficiency type 1
  720982007http://snomed.info/sctAlport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
  447275002http://snomed.info/sctAlveolar capillary dysplasia with pulmonary venous misalignment
  286920009http://snomed.info/sctAmino acid/carbohydrate metabolic disorder
  67845009http://snomed.info/sctAminomethyltransferase deficiency
  702437000http://snomed.info/sctAmish lethal microcephaly
  6667002http://snomed.info/sctAnadidymus
  53743006http://snomed.info/sctAnaemia following fetal blood loss
  449445004http://snomed.info/sctAnatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries
  720984008http://snomed.info/sctAngel-shaped phalangoepiphyseal dysplasia
  76880004http://snomed.info/sctAngelman syndrome
  1162462009http://snomed.info/sctAngelman syndrome due to maternal monosomy 15q11q13
  720467005http://snomed.info/sctAniridia and absent patella syndrome
  720987001http://snomed.info/sctAniridia, ptosis, intellectual disability, familial obesity syndrome
  461420008http://snomed.info/sctAnomalous coronary artery with acute angulation of less than 45 degrees relative to aorta
  461384000http://snomed.info/sctAnomalous course of coronary artery across right ventricular outflow tract
  461383006http://snomed.info/sctAnomalous intramural course of proximal portion of coronary artery above aortic sinus
  461382001http://snomed.info/sctAnomalous intramural course of proximal portion of coronary artery across commissure of aortic valve
  460471001http://snomed.info/sctAnomalous origin of conus artery from separate aortic sinus orifice
  460510005http://snomed.info/sctAnomalous origin of coronary arteries from anterior aortic sinus
  253638007http://snomed.info/sctAnomalous origin of left pulmonary artery from right pulmonary artery
  460524009http://snomed.info/sctAnomalous origin of right coronary artery from left anterior descending coronary artery
  448486000http://snomed.info/sctAnomalous pulmonary to systemic collateral vein
  1259119003http://snomed.info/sctAntenatal multi-minicore disease with arthrogryposis multiplex congenita
  448645003http://snomed.info/sctAortic arch hypoplasia between subclavian and common carotid arteries
  445636003http://snomed.info/sctAortic orifice anterior right with respect to pulmonary orifice
  403551000http://snomed.info/sctAplasia cutis congenita due to teratogenic drug (Type 7)
  838362006http://snomed.info/sctAplasia cutis congenita of limb
  403757004http://snomed.info/sctAplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn)
  403756008http://snomed.info/sctAplasia cutis in Trisomy 13 syndrome
  783231007http://snomed.info/sctAplasia of body of uterus
  448480006http://snomed.info/sctArterial duct from left subclavian artery
  703265006http://snomed.info/sctArteriovenous malformation of face
  703334000http://snomed.info/sctArteriovenous malformation of mandible
  703335004http://snomed.info/sctArteriovenous malformation of maxilla
  234157001http://snomed.info/sctArteriovenous-lymphatic malformation
  786039009http://snomed.info/sctArthrogryposis and ectodermal dysplasia syndrome
  726620005http://snomed.info/sctArthrogryposis hyperkeratosis syndrome lethal form
  55731008http://snomed.info/sctArylsulfatase deficiency without metachromatic leukodystrophy
  68504005http://snomed.info/sctAtaxia-telangiectasia syndrome
  725142004http://snomed.info/sctAtelosteogenesis type 3
  718577005http://snomed.info/sctAtkin Flaitz syndrome
  78044008http://snomed.info/sctAtlanto-occipital malformation
  204431007http://snomed.info/sctAtresia and stenosis of aorta
  461577007http://snomed.info/sctAtresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery
  204999002http://snomed.info/sctAtresia of bladder neck
  890099000http://snomed.info/sctAtresia of ileum type I
  448087002http://snomed.info/sctAtresia of pulmonary trunk with absent right pulmonary artery
  725145002http://snomed.info/sctAtrial septal defect, atrioventricular conduction defect syndrome
  871616009http://snomed.info/sctAtrial situs inversus
  445334007http://snomed.info/sctAtrioventricular septal defect with additional muscular ventricular septal defect
  449459006http://snomed.info/sctAtrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure
  444961009http://snomed.info/sctAtrioventricular septal defect with common atrioventricular orifice
  448183001http://snomed.info/sctAtrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet
  448184007http://snomed.info/sctAtrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices
  253420001http://snomed.info/sctAtrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum
  763066009http://snomed.info/sctAtrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
  1156792000http://snomed.info/sctAtypical Gaucher disease due to saposin C deficiency
  1230097004http://snomed.info/sctAtypical Timothy syndrome
  733623005http://snomed.info/sctAutism spectrum disorder, epilepsy, arthrogryposis syndrome
  66185005http://snomed.info/sctAutosomal dominant excess of transthyretin
  715339004http://snomed.info/sctAutosomal dominant keratitis
  771269000http://snomed.info/sctAutosomal dominant multiple pterygium syndrome
  240075007http://snomed.info/sctAutosomal dominant muscular dystrophy not predominantly limb girdle
  725165009http://snomed.info/sctAutosomal dominant omodysplasia
  1264041000http://snomed.info/sctAutosomal dominant osteopetrosis type 1
  770404004http://snomed.info/sctAutosomal recessive chorioretinopathy and microcephaly syndrome
  1269235004http://snomed.info/sctAutosomal recessive extra-oral halitosis
  725434009http://snomed.info/sctAutosomal recessive faciodigitogenital syndrome
  715981004http://snomed.info/sctAutosomal recessive primary microcephaly
  765755006http://snomed.info/sctAxial mesodermal dysplasia spectrum
  403815003http://snomed.info/sctAxillary freckling due to neurofibromatosis
  253254003http://snomed.info/sctAztec ear
  77608001http://snomed.info/sctBaller-Gerold syndrome
  1187644009http://snomed.info/sctBasel Vanagaite Smirin Yosef syndrome
  387732009http://snomed.info/sctBecker muscular dystrophy
  239032007http://snomed.info/sctBerlin syndrome
  237224004http://snomed.info/sctBicornuate uterus affecting obstetric care
  890220003http://snomed.info/sctBicuspid aortic valve-associated aortopathy
  84557007http://snomed.info/sctBifid tongue
  461093009http://snomed.info/sctBilateral arterial duct
  461094003http://snomed.info/sctBilateral arterial duct with patent left arterial duct and closed right arterial duct
  890373001http://snomed.info/sctBilateral central polydactyly of fingers
  890384008http://snomed.info/sctBilateral central polydactyly of toes
  890382007http://snomed.info/sctBilateral choanal atresia
  461097005http://snomed.info/sctBilateral closed arterial ducts
  717704000http://snomed.info/sctBilateral congenital absence of fallopian tube
  15987031000119108http://snomed.info/sctBilateral congenital aniridia of eyes
  890416004http://snomed.info/sctBilateral congenital clinodactyly of fingers
  346711000119101http://snomed.info/sctBilateral congenital combined form cataract of eyes
  890412002http://snomed.info/sctBilateral congenital dacryocoele
  15670201000119103http://snomed.info/sctBilateral congenital elevation of scapulae
  840479000http://snomed.info/sctBilateral congenital entropion
  890352001http://snomed.info/sctBilateral congenital hallux valgus
  15986551000119109http://snomed.info/sctBilateral congenital hypertrophy of retinal pigment epithelium
  1162883007http://snomed.info/sctBilateral congenital instability of hip joints
  840481003http://snomed.info/sctBilateral congenital knee dislocation
  890411009http://snomed.info/sctBilateral congenital patella dislocation
  349281000119109http://snomed.info/sctBilateral congenital zonular cataract
  840485007http://snomed.info/sctBilateral cornea plana
  253576006http://snomed.info/sctBilateral deficient infundibula
  1003446003http://snomed.info/sctBilateral humero-ulnar synostosis
  840492002http://snomed.info/sctBilateral microphthalmos with congenital coloboma
  890396001http://snomed.info/sctBilateral optic disc pitting
  461096001http://snomed.info/sctBilateral patent arterial ducts
  890360000http://snomed.info/sctBilateral polydactyly of thumb
  15863971000119106http://snomed.info/sctBilateral preauricular regions cyst
  890425005http://snomed.info/sctBilateral proximal symphalangism
  890424009http://snomed.info/sctBilateral secondary congenital hyperplasia of lung
  897523003http://snomed.info/sctBilateral triphalangeal thumb
  29052002http://snomed.info/sctBilobed right lung
  717940006http://snomed.info/sctBNAR syndrome
  254054000http://snomed.info/sctBoomerang dysplasia
  21634003http://snomed.info/sctBorjeson-Forssman-Lehmann syndrome
  764437006http://snomed.info/sctBrachydactyly elbow wrist dysplasia
  890438002http://snomed.info/sctBrachydactyly type A3
  890439005http://snomed.info/sctBrachydactyly type D
  765761009http://snomed.info/sctBrachydactyly, mesomelia, intellectual disability, heart defect syndrome
  254775002http://snomed.info/sctBregeat's syndrome
  253747005http://snomed.info/sctBronchopulmonary isomerism
  109552000http://snomed.info/sctBuccal bifurcation cyst
  253869009http://snomed.info/sctCake kidney
  20491006http://snomed.info/sctCalcaneonavicular bar
  720599002http://snomed.info/sctCampomelia Cumming type
  733045005http://snomed.info/sctCamptobrachydactyly
  720602007http://snomed.info/sctCamptodactyly syndrome Guadalajara type 1
  720603002http://snomed.info/sctCamptodactyly syndrome Guadalajara type 2
  733466005http://snomed.info/sctCamptodactyly taurinuria syndrome
  297253000http://snomed.info/sctCardiac glycogen phosphorylase kinase deficiency
  720610008http://snomed.info/sctCardiomyopathy and renal anomaly syndrome
  238003000http://snomed.info/sctCarnitine acylcarnitine translocase deficiency
  718851007http://snomed.info/sctCataract glaucoma syndrome
  722383001http://snomed.info/sctCatel Manzke syndrome
  722385008http://snomed.info/sctCEDNIK syndrome
  1204130006http://snomed.info/sctCentral basal perimembranous ventricular septal defect
  204616008http://snomed.info/sctCentral complete cleft palate with cleft lip
  204617004http://snomed.info/sctCentral incomplete cleft palate with cleft lip
  1237475006http://snomed.info/sctCerebellar-facial-dental syndrome
  763353000http://snomed.info/sctCerebrofacioarticular syndrome
  720855003http://snomed.info/sctCerebrooculonasal syndrome
  720853005http://snomed.info/sctCernunnos-XLF deficiency
  720852000http://snomed.info/sctCervical hypertrichosis and peripheral neuropathy syndrome
  203934001http://snomed.info/sctCervical spina bifida with hydrocephalus
  203941007http://snomed.info/sctCervical spina bifida with hydrocephalus - open
  204010001http://snomed.info/sctCervical spina bifida without hydrocephalus - closed
  35082008http://snomed.info/sctCervical thymic remnant
  890422008http://snomed.info/sctCervicothoracic spina bifida aperta with hydrocephalus
  720638000http://snomed.info/sctCharcot-Marie-Tooth disease type 4J
  389273002http://snomed.info/sctCherubism with gingival fibromatosis
  398958000http://snomed.info/sctChondrodysplasia punctata, X-linked dominant type
  720850008http://snomed.info/sctChoroidal atrophy and alopecia syndrome
  123650004http://snomed.info/sctChromosomal alterations of group E
  82317007http://snomed.info/sctChronic granulomatous disease, type III
  254197008http://snomed.info/sctCicatricial junctional epidermolysis bullosa
  109546001http://snomed.info/sctCleft of primary palate
  723888006http://snomed.info/sctClinodactyly of toe
  717771007http://snomed.info/sctCloverleaf skull with multiple congenital anomalies syndrome
  890433006http://snomed.info/sctCockayne syndrome type 1
  10007009http://snomed.info/sctCoffin-Siris syndrome
  238000002http://snomed.info/sctCombined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase
  253602000http://snomed.info/sctCommissural fusion of aortic valve
  445294008http://snomed.info/sctCommon atrioventricular orifice in double inlet ventricle
  253446002http://snomed.info/sctCommon atrioventricular valve chordae too long
  253445003http://snomed.info/sctCommon atrioventricular valve chordae too short
  253434001http://snomed.info/sctCommon atrioventricular valve limited to one ventricle
  253438003http://snomed.info/sctCommon atrioventricular valve prolapse
  871622000http://snomed.info/sctCommon atrioventricular valve with unbalanced commitment of valve to ventricle
  78740005http://snomed.info/sctComplete monosomy 21
  51500006http://snomed.info/sctComplete trisomy 18 syndrome
  71703005http://snomed.info/sctComplete trisomy 22 syndrome
  68454002http://snomed.info/sctComplete trisomy 8 syndrome
  449385006http://snomed.info/sctConfluent muscular ventricular septal defect
  92842008http://snomed.info/sctCongenital abnormal fusion of calcaneus
  92850004http://snomed.info/sctCongenital abnormal fusion of centrum of lumbar vertebra
  92851000http://snomed.info/sctCongenital abnormal fusion of centrum of sacral vertebra
  92864004http://snomed.info/sctCongenital abnormal fusion of liver lobes
  92865003http://snomed.info/sctCongenital abnormal fusion of mandible
  92873007http://snomed.info/sctCongenital abnormal fusion of presphenoid bone
  92876004http://snomed.info/sctCongenital abnormal fusion of squamosal bone
  92878003http://snomed.info/sctCongenital abnormal fusion of talus
  783773000http://snomed.info/sctCongenital abnormal number of coronary ostia
  92887007http://snomed.info/sctCongenital abnormal shape of alisphenoid bone
  92903007http://snomed.info/sctCongenital abnormal shape of centrum of thoracic vertebra
  92904001http://snomed.info/sctCongenital abnormal shape of cerebellum
  92917003http://snomed.info/sctCongenital abnormal shape of ilium
  92919000http://snomed.info/sctCongenital abnormal shape of interparietal bone
  449383004http://snomed.info/sctCongenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect
  449098005http://snomed.info/sctCongenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle
  448073002http://snomed.info/sctCongenital abnormality of tricuspid papillary muscle
  840512003http://snomed.info/sctCongenital absence of all bilateral toes
  37221009http://snomed.info/sctCongenital absence of all toes
  24787008http://snomed.info/sctCongenital absence of broad ligament
  92962004http://snomed.info/sctCongenital absence of carotid artery
  876847002http://snomed.info/sctCongenital absence of carpal bone and metacarpal bone
  204285005http://snomed.info/sctCongenital absence of chin
  204695006http://snomed.info/sctCongenital absence of duodenum
  22138001http://snomed.info/sctCongenital absence of earlobe
  840510006http://snomed.info/sctCongenital absence of epiglottis
  92973006http://snomed.info/sctCongenital absence of fallopian tube
  73465006http://snomed.info/sctCongenital absence of germinal epithelium of testes
  304931000119109http://snomed.info/sctCongenital absence of left forearm and hand
  302958006http://snomed.info/sctCongenital absence of multiple toes
  92970009http://snomed.info/sctCongenital absence of nasal turbinate
  75311005http://snomed.info/sctCongenital absence of ossicles of ear
  304971000119107http://snomed.info/sctCongenital absence of right lower leg and foot
  26865008http://snomed.info/sctCongenital absence of superior vena cava
  92976003http://snomed.info/sctCongenital absence of tricuspid valve
  254225000http://snomed.info/sctCongenital alopecia with keratin cysts
  590005http://snomed.info/sctCongenital aneurysm of anterior communicating artery
  897530009http://snomed.info/sctCongenital ankylosis of incudomallear articulation
  92994009http://snomed.info/sctCongenital anomaly of azygos vein
  871583003http://snomed.info/sctCongenital anomaly of left-sided atrioventricular valve in double inlet ventricle
  8032007http://snomed.info/sctCongenital anomaly of thyroid cartilage
  42666000http://snomed.info/sctCongenital anomaly of tracheal cartilage
  204905003http://snomed.info/sctCongenital aplasia of round ligament
  307355007http://snomed.info/sctCongenital athetosis
  29345006http://snomed.info/sctCongenital atresia of ejaculatory duct
  93031005http://snomed.info/sctCongenital atresia of inferior vena cava
  39513007http://snomed.info/sctCongenital atresia of vas deferens
  92982000http://snomed.info/sctCongenital bent humerus
  92983005http://snomed.info/sctCongenital bent hyoid bone
  92984004http://snomed.info/sctCongenital bent ilium
  719454003http://snomed.info/sctCongenital bile acid synthesis defect type 3
  205068007http://snomed.info/sctCongenital bowing of fibula
  95610008http://snomed.info/sctCongenital brain damage
  715989002http://snomed.info/sctCongenital cataract with intellectual disability and anal atresia and urinary defect syndrome
  715436007http://snomed.info/sctCongenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
  206289001http://snomed.info/sctCongenital chlamydial pneumonia
  51062009http://snomed.info/sctCongenital constriction of pylorus
  112871000119104http://snomed.info/sctCongenital contracture of toe joint
  419496009http://snomed.info/sctCongenital corneal keloid
  253720000http://snomed.info/sctCongenital coronary arteriovenous fistula
  253327004http://snomed.info/sctCongenital coronary sinus stenosis
  74820003http://snomed.info/sctCongenital coxa vara
  233627004http://snomed.info/sctCongenital cystic bronchiectasis
  726334003http://snomed.info/sctCongenital dacryocoele
  1217624005http://snomed.info/sctCongenital deformity of bony orbit
  15667921000119108http://snomed.info/sctCongenital deformity of left hip joint
  93057008http://snomed.info/sctCongenital dilatation of innominate artery
  93060001http://snomed.info/sctCongenital dilatation of stomach
  70690000http://snomed.info/sctCongenital discoid meniscus
  205066006http://snomed.info/sctCongenital dislocation of knee grade III
  767004005http://snomed.info/sctCongenital dislocation of left hip co-occurrent with congenital subluxation of right hip
  205067002http://snomed.info/sctCongenital dislocation of patella
  767005006http://snomed.info/sctCongenital dislocation of right hip co-occurrent with congenital subluxation of left hip
  733451007http://snomed.info/sctCongenital disorder of glycosylation type 1s
  95506002http://snomed.info/sctCongenital displacement of punctum lacrimale
  721646008http://snomed.info/sctCongenital diverticulitis of small intestine
  253792003http://snomed.info/sctCongenital diverticulosis
  721647004http://snomed.info/sctCongenital diverticulosis of small intestine
  5565008http://snomed.info/sctCongenital diverticulum of trachea
  93066007http://snomed.info/sctCongenital downward displacement of stomach
  46907007http://snomed.info/sctCongenital duplication of gallbladder
  890385009http://snomed.info/sctCongenital duplication of gallbladder type 1
  707770004http://snomed.info/sctCongenital duplication of renal collecting system
  94181000119108http://snomed.info/sctCongenital duplication of renal collecting system without obstruction
  13568007http://snomed.info/sctCongenital duplication of stomach
  871597006http://snomed.info/sctCongenital dysplasia of aortic valve
  871618005http://snomed.info/sctCongenital dysplasia of truncal valve
  424087001http://snomed.info/sctCongenital ectopia of lacrimal punctum
  79120002http://snomed.info/sctCongenital elevation of scapula
  230677000http://snomed.info/sctCongenital end-plate acetylcholinesterase deficiency
  254236007http://snomed.info/sctCongenital enlarged nails
  37104009http://snomed.info/sctCongenital enlargement of coronary sinus
  314786000http://snomed.info/sctCongenital exotropia
  1217625006http://snomed.info/sctCongenital expansion of orbit
  302955009http://snomed.info/sctCongenital extension contracture of the knee
  472778003http://snomed.info/sctCongenital extrapericardial cyst
  236466005http://snomed.info/sctCongenital Fanconi syndrome
  92980008http://snomed.info/sctCongenital fenestration of alisphenoid bone
  16520041000119104http://snomed.info/sctCongenital fenestration of basilar artery
  1208413008http://snomed.info/sctCongenital fibre-type disproportion myopathy due to ACTA1 mutation
  1201964008http://snomed.info/sctCongenital fibre-type disproportion myopathy due to ZAK mutation
  302952007http://snomed.info/sctCongenital fistula of rectum and anus
  838368005http://snomed.info/sctCongenital generalised hypertrichosis
  89689008http://snomed.info/sctCongenital genu valgum
  1078161000119101http://snomed.info/sctCongenital hallux valgus of right great toe
  237227006http://snomed.info/sctCongenital heart disease in pregnancy
  205838004http://snomed.info/sctCongenital hemihypertrophy
  417651000http://snomed.info/sctCongenital hereditary endothelial dystrophy
  417395001http://snomed.info/sctCongenital hereditary endothelial dystrophy type 2
  1208346003http://snomed.info/sctCongenital hydrocephalus, low insertion of umbilicus syndrome
  40028009http://snomed.info/sctCongenital hyperplasia of intrahepatic bile duct
  840475006http://snomed.info/sctCongenital hypertrophy of lateral fold of hallux
  93073002http://snomed.info/sctCongenital hypertrophy of ovary
  15986591000119104http://snomed.info/sctCongenital hypertrophy of retinal pigment epithelium of left eye
  41517009http://snomed.info/sctCongenital hypertrophy of sphenoid bone
  4495005http://snomed.info/sctCongenital hypertrophy of ureteric valve
  722854006http://snomed.info/sctCongenital hypoganglionosis of large intestine
  461371009http://snomed.info/sctCongenital hypoplasia of abdominal aorta
  93236008http://snomed.info/sctCongenital hypoplasia of alisphenoid bone
  93244008http://snomed.info/sctCongenital hypoplasia of basisphenoid bone
  93258005http://snomed.info/sctCongenital hypoplasia of frontal bone
  16054431000119107http://snomed.info/sctCongenital hypoplasia of left optic nerve
  34911001http://snomed.info/sctCongenital hypoplasia of penis
  733030003http://snomed.info/sctCongenital hypoplasia of ulna and split foot syndrome
  215677009http://snomed.info/sctCongenital hypothyroidism with ectopic thyroid
  363040003http://snomed.info/sctCongenital immunodeficiency involving the haematopoietic system
  767446006http://snomed.info/sctCongenital instability of left hip joint
  767447002http://snomed.info/sctCongenital instability of right hip joint
  83119008http://snomed.info/sctCongenital insufficiency of tricuspid valve
  204748003http://snomed.info/sctCongenital intestinal adhesions
  1231283007http://snomed.info/sctCongenital isolated adrenocorticotropic hormone deficiency
  1172594000http://snomed.info/sctCongenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
  51523009http://snomed.info/sctCongenital laryngocele
  371080001http://snomed.info/sctCongenital leg length discrepancy
  79801002http://snomed.info/sctCongenital leptomeningeal angiomatosis
  840473004http://snomed.info/sctCongenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form
  840474005http://snomed.info/sctCongenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form
  7964000http://snomed.info/sctCongenital listeriosis
  205592008http://snomed.info/sctCongenital localised alopecia
  1156306006http://snomed.info/sctCongenital lumbosacral spondylolisthesis
  27409004http://snomed.info/sctCongenital macrocheilia
  40159009http://snomed.info/sctCongenital macrostomia
  767031008http://snomed.info/sctCongenital macrostomia of left side of mouth
  403282000http://snomed.info/sctCongenital malalignment of multiple toenails
  402559007http://snomed.info/sctCongenital malignant melanoma
  93343004http://snomed.info/sctCongenital malposition of palate rugae
  93367007http://snomed.info/sctCongenital malrotation of limb
  1137561000http://snomed.info/sctCongenital megacalycosis
  890370003http://snomed.info/sctCongenital megacalycosis of bilateral kidneys
  68914007http://snomed.info/sctCongenital mesenteroaxial volvulus of stomach
  86595004http://snomed.info/sctCongenital mesocolic hernia
  721880009http://snomed.info/sctCongenital microgastria with limb reduction defect syndrome
  93369005http://snomed.info/sctCongenital microhepatia
  737377004http://snomed.info/sctCongenital mixed conductive and sensorineural hearing loss
  230672006http://snomed.info/sctCongenital myasthenic syndrome
  240084007http://snomed.info/sctCongenital myopathy with fibre type disproportion
  1003468008http://snomed.info/sctCongenital nasopharyngeal teratoma
  276585000http://snomed.info/sctCongenital nephritis
  40145002http://snomed.info/sctCongenital neutrophil actin dysfunction
  363041004http://snomed.info/sctCongenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
  473395000http://snomed.info/sctCongenital occlusion of femoral vein
  88103004http://snomed.info/sctCongenital onychauxis
  403281007http://snomed.info/sctCongenital onychodysplasia of index fingers
  128065004http://snomed.info/sctCongenital partial portal-systemic shunt
  713509006http://snomed.info/sctCongenital penile torsion
  95466001http://snomed.info/sctCongenital perforation of nasal septum
  1217639006http://snomed.info/sctCongenital periodic alternating nystagmus
  253854008http://snomed.info/sctCongenital phimosis
  1079661000119102http://snomed.info/sctCongenital pigmented melanocytic naevus of skin of left ear
  683261000119102http://snomed.info/sctCongenital pigmented melanocytic naevus of skin of scalp
  330041000119103http://snomed.info/sctCongenital porencephalic cyst
  1254751008http://snomed.info/sctCongenital prepapillary vascular loop
  1177173001http://snomed.info/sctCongenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
  890393009http://snomed.info/sctCongenital prolapse of mitral valve
  89318001http://snomed.info/sctCongenital prolapsed uterus
  890388006http://snomed.info/sctCongenital pulmonary airway malformation type 4
  708028001http://snomed.info/sctCongenital pulmonary alveolar capillary dysplasia
  12104008http://snomed.info/sctCongenital rectocloacal fistula
  840488009http://snomed.info/sctCongenital regurgitation of truncal valve
  897559009http://snomed.info/sctCongenital retinal dysplasia due to teratogenic substance
  254233004http://snomed.info/sctCongenital ringed hair
  128066003http://snomed.info/sctCongenital splenorenal shunt
  707371002http://snomed.info/sctCongenital stenosis of left pulmonary artery
  1003443006http://snomed.info/sctCongenital stenosis of male external urethral orifice
  449135007http://snomed.info/sctCongenital stenosis of mitral subvalvular apparatus
  11614003http://snomed.info/sctCongenital stenosis of pulmonary veins
  23544000http://snomed.info/sctCongenital stenosis of vagina
  43970002http://snomed.info/sctCongenital stenosis of vagina affecting pregnancy
  39476006http://snomed.info/sctCongenital stricture of rectum
  890386005http://snomed.info/sctCongenital subglottic stenosis Cotton-Myer grade 1
  890387001http://snomed.info/sctCongenital subglottic stenosis Cotton-Myer grade 2
  205052001http://snomed.info/sctCongenital subluxation of hip, bilateral
  9941009http://snomed.info/sctCongenital syphilitic choroiditis
  192008http://snomed.info/sctCongenital syphilitic hepatomegaly
  93408001http://snomed.info/sctCongenital thickening of scapula
  93409009http://snomed.info/sctCongenital thickening of talus
  237516005http://snomed.info/sctCongenital thyroid hypoplasia
  253741006http://snomed.info/sctCongenital tracheo-oesophageal cleft
  447851008http://snomed.info/sctCongenital tracheo-oesophageal fistula with oesophageal stenosis
  95467005http://snomed.info/sctCongenital tracheomalacia
  93415009http://snomed.info/sctCongenital transposition of azygos vein
  716280004http://snomed.info/sctCongenital tubular duplication of oesophagus
  253887007http://snomed.info/sctCongenital ureteric valves
  253906004http://snomed.info/sctCongenital urethral syringocele
  700279004http://snomed.info/sctCongenital vascular anomaly of upper eyelid
  1260142000http://snomed.info/sctCongenital vertebral, cardiac, renal anomalies syndrome
  206372007http://snomed.info/sctCongenital viral hepatitis
  95505003http://snomed.info/sctCongenitally small punctum lacrimale
  720747002http://snomed.info/sctCooks syndrome
  720748007http://snomed.info/sctCooper Jabs syndrome
  720749004http://snomed.info/sctCorneal dystrophy and perceptive deafness syndrome
  429641000124109http://snomed.info/sctCoronal hypospadias
  448356006http://snomed.info/sctCoronary sinus drainage cephalad to right superior vena cava
  763797003http://snomed.info/sctCorpus callosum agenesis, abnormal genitalia syndrome
  732251003http://snomed.info/sctCortical blindness, intellectual disability, polydactyly syndrome
  253156008http://snomed.info/sctCortical dysplasia with hemimegalencephaly
  763665007http://snomed.info/sctCraniodigital syndrome and intellectual disability syndrome
  702362004http://snomed.info/sctCraniofacial deafness hand syndrome
  715421009http://snomed.info/sctCraniofrontonasal dysplasia
  205771006http://snomed.info/sctCraniopagus frontalis
  732250002http://snomed.info/sctCraniosynostosis fibular aplasia syndrome
  715422002http://snomed.info/sctCraniotelencephalic dysplasia
  253269002http://snomed.info/sctCriss-cross heart
  447289007http://snomed.info/sctCriss-cross heart with leftward rotation
  17827007http://snomed.info/sctCross syndrome
  253866002http://snomed.info/sctCrossed ectopia of kidney with fusion anomaly
  770409009http://snomed.info/sctCrossed polysyndactyly
  429967001http://snomed.info/sctCryptotia
  254222002http://snomed.info/sctCutis laxa, recessive, type I
  13003007http://snomed.info/sctCystathioninuria
  448822006http://snomed.info/sctDeficiency of atrioventricular valve leaflet in atrioventricular septal defect
  66521008http://snomed.info/sctDeficiency of cerebroside-sulfatase
  52677002http://snomed.info/sctDeficiency of N-acetylgalactosamine-4-sulfatase
  270889005http://snomed.info/sctDeletion of long arm of chromosome 18
  1162440009http://snomed.info/sctDeletion of part of short arm of chromosome 12
  9245008http://snomed.info/sctDentigerous cyst
  109493006http://snomed.info/sctDentin dysplasia, type I
  109494000http://snomed.info/sctDentin dysplasia, type II
  733044009http://snomed.info/sctDermatoleukodystrophy
  1237225007http://snomed.info/sctDermatosparaxis Ehlers-Danlos syndrome
  15969009http://snomed.info/sctDesmiognathus
  65178004http://snomed.info/sctDeventer's pelvis
  204991004http://snomed.info/sctDeviation of ureter
  58561002http://snomed.info/sctDiastrophic dysplasia
  253851000http://snomed.info/sctDiphallus
  93429005http://snomed.info/sctDiscontinuous rib
  253756002http://snomed.info/sctDisplacement of Wharton's duct
  715575001http://snomed.info/sctDistal arthrogryposis type 4
  897524009http://snomed.info/sctDistal deletion of short arm of chromosome 1
  1003322006http://snomed.info/sctDistal deletion of short arm of chromosome 3
  897545002http://snomed.info/sctDistal duplication of chromosome 21
  764459008http://snomed.info/sctDistal trisomy 16q
  897510005http://snomed.info/sctDistal trisomy 3q
  448066007http://snomed.info/sctDivided left atrium with nonrestrictive outlet of proximal chamber to left atrium
  447850009http://snomed.info/sctDouble aortic arch with right arch dominant and coarctation of left arch
  461438006http://snomed.info/sctDouble barrel dual coronary artery orifices within aortic sinus
  253301004http://snomed.info/sctDouble outlet from ventricle of indeterminate morphology
  253300003http://snomed.info/sctDouble outlet right ventricle with doubly committed ventricular septal defect
  447284002http://snomed.info/sctDouble outlet right ventricle with intact ventricular septum
  871601006http://snomed.info/sctDouble outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type
  14178006http://snomed.info/sctDouble renal pelvis
  50749006http://snomed.info/sctDouble Y syndrome
  871604003http://snomed.info/sctDoubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum
  253570000http://snomed.info/sctDoubly committed subarterial ventricular septal defect with muscular posterior inferior rim
  279920004http://snomed.info/sctDuct of epoophoron
  253873007http://snomed.info/sctDuplex kidney with reflux in one ureter
  60680007http://snomed.info/sctDuplication of duodenum
  1162488007http://snomed.info/sctDuplication of part of long arm of chromosome 16
  253919000http://snomed.info/sctDuplication of whole upper limb
  423462008http://snomed.info/sctDural carotid cavernous fistula
  82699004http://snomed.info/sctDyggve-Melchior-Clausen syndrome
  722433005http://snomed.info/sctDyschondrosteosis and nephritis syndrome
  27642008http://snomed.info/sctDysmorphic sialidosis, congenital form
  254069004http://snomed.info/sctDysostosis multiplex
  253432002http://snomed.info/sctDysplasia of common atrioventricular valve
  765204000http://snomed.info/sctDyssegmental dysplasia Silverman Handmaker type
  403809003http://snomed.info/sctDystrophic epidermolysis bullosa inverse type
  253603005http://snomed.info/sctEccentric opening of aortic valve
  449123008http://snomed.info/sctEccentric opening of tricuspid aortic valve
  734017008http://snomed.info/sctEctodermal dysplasia, intellectual disability, central nervous system malformation syndrome
  61108006http://snomed.info/sctEctopic intestinal mucosa
  89954008http://snomed.info/sctEctopic pancreatic tissue in stomach
  39788007http://snomed.info/sctEctrodactyly-ectodermal dysplasia-clefting syndrome
  722439009http://snomed.info/sctEDICT syndrome
  50869007http://snomed.info/sctEhlers-Danlos syndrome, type 8
  15931301000119102http://snomed.info/sctEmbryonic cyst of left ovary
  204021005http://snomed.info/sctEncephalomyelocele
  398071000http://snomed.info/sctEpidermolysis bullosa simplex, Ogna type
  733031004http://snomed.info/sctEpilepsy, microcephaly, skeletal dysplasia syndrome
  763767006http://snomed.info/sctErythema palmare hereditarium
  698772008http://snomed.info/sctExtraosseous calcifying odontogenic cyst
  10375008http://snomed.info/sctExtrapulmonary subpleural pulmonary sequestration
  399091004http://snomed.info/sctFacioscapulohumeral muscular dystrophy
  45963004http://snomed.info/sctFactor XI deficiency, type III
  37404003http://snomed.info/sctFailure of rotation of colon
  205364004http://snomed.info/sctFailure of soft tissue differentiation of lower limb
  723336008http://snomed.info/sctFallot complex with intellectual disability and growth delay syndrome
  37495007http://snomed.info/sctFamilial adrenocortical hypoplasia
  238093009http://snomed.info/sctFamilial hypobetalipoproteinaemia - homozygous form
  1179298002http://snomed.info/sctFamilial patent arterial duct
  763368004http://snomed.info/sctFamilial progressive hyperpigmentation and hypopigmentation of skin
  1285021005http://snomed.info/sctFanconi anaemia of complementation group C
  763346009http://snomed.info/sctFetal akinesia, cerebral and retinal haemorrhage syndrome
  782758009http://snomed.info/sctFinger hyperphalangy, toe anomalies, severe pectus excavatum syndrome
  33010005http://snomed.info/sctFloppy infant syndrome
  789159005http://snomed.info/sctFocal facial dermal dysplasia type II
  10567003http://snomed.info/sctFour X syndrome
  782754006http://snomed.info/sctFoveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
  109413005http://snomed.info/sctFronto-malar faciosynostosis
  109411007http://snomed.info/sctFronto-naso-ethmoidal dysostosis
  204578005http://snomed.info/sctFusion of lobes of lung
  78586005http://snomed.info/sctGamma-glutamyl transpeptidase deficiency
  733037000http://snomed.info/sctGerman syndrome
  82393007http://snomed.info/sctGiant oesophagus
  78753008http://snomed.info/sctGlobulo-maxillary cyst
  59761008http://snomed.info/sctGlutamate formiminotransferase deficiency
  725026008http://snomed.info/sctGlycogen storage disease due to hepatic glycogen synthase deficiency
  725027004http://snomed.info/sctGlycogen storage disease due to muscle and heart glycogen synthase deficiency
  717821004http://snomed.info/sctGlycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  715568002http://snomed.info/sctGnathodiaphyseal dysplasia
  717822006http://snomed.info/sctGoldberg Shprintzen megacolon syndrome
  93466004http://snomed.info/sctGonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
  253178001http://snomed.info/sctGranular cell hypoplasia
  77542002http://snomed.info/sctGrebe syndrome
  123645005http://snomed.info/sctGroup chromosomal alteration
  724385009http://snomed.info/sctGrowth delay due to insulin-like growth factor type 1 deficiency
  18792003http://snomed.info/sctH-type congenital tracheo-oesophageal fistula
  685061000119108http://snomed.info/sctHaemoglobin C beta plus thalassaemia
  1148910003http://snomed.info/sctHaemoglobin C beta thalassaemia
  51053007http://snomed.info/sctHaemoglobin C disease
  76050008http://snomed.info/sctHaemoglobin C trait
  1148899002http://snomed.info/sctHaemoglobin Seal Rock disease
  782880001http://snomed.info/sctHaemoglobinopathy Toms River
  716189005http://snomed.info/sctHeide syndrome
  699420006http://snomed.info/sctHemifacial myohyperplasia
  22471005http://snomed.info/sctHemispheric cerebellar agenesis
  57835009http://snomed.info/sctHepatic methionine adenosyltransferase deficiency
  449016005http://snomed.info/sctHepatic vein to left atrium and right atrium
  449015009http://snomed.info/sctHepatic vein to right sided atrium
  764962002http://snomed.info/sctHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  1162804003http://snomed.info/sctHereditary congenital prekallikrein deficiency
  75443009http://snomed.info/sctHereditary elliptocytosis due to abnormal protein 4.1
  724351008http://snomed.info/sctHereditary hyperekplexia
  724350009http://snomed.info/sctHereditary hypotrichosis with recurrent skin vesicles syndrome
  403442005http://snomed.info/sctHereditary mucoepithelial dysplasia
  54006005http://snomed.info/sctHereditary persistence of fetal haemoglobin delta beta plus thalassaemia
  721222007http://snomed.info/sctHirschsprung disease with type D brachydactyly syndrome
  42484009http://snomed.info/sctHNSHA due to hexokinase deficiency
  721227001http://snomed.info/sctHunter McAlpine craniosynostosis syndrome
  23931000119104http://snomed.info/sctHydrocephalus due to Arnold Chiari malformation type 2
  721236002http://snomed.info/sctHyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
  1051005http://snomed.info/sctHyperplasia of islet alpha cells with gastrin excess
  773667003http://snomed.info/sctHypertelorism, preauricular sinus, punctual pits, deafness syndrome
  47719001http://snomed.info/sctHypervalinaemia
  253203003http://snomed.info/sctHypoplasia of brain gyri
  204217005http://snomed.info/sctHypoplasia of eye muscle
  716741008http://snomed.info/sctHypoplastic tibia and postaxial polydactyly syndrome
  254170001http://snomed.info/sctIchthyosis hystrix of Curth-Macklin
  763401009http://snomed.info/sctIchthyosis prematurity syndrome
  403779009http://snomed.info/sctIchthyosis, cerebellar degeneration and hepatosplenomegaly
  254067002http://snomed.info/sctImmuno-osseous dysplasia
  766705006http://snomed.info/sctImmunodeficiency due to ficolin 3 deficiency
  253430005http://snomed.info/sctImperforate common atrioventricular valve
  253217007http://snomed.info/sctImperforate lacrimal punctum
  359824007http://snomed.info/sctIncomplete anencephaly
  204300001http://snomed.info/sctIncomplete great vessel transposition
  93590001http://snomed.info/sctIncomplete ossification of mandible
  93591002http://snomed.info/sctIncomplete ossification of maxilla
  93598008http://snomed.info/sctIncomplete ossification of presphenoid bone
  24752008http://snomed.info/sctInfantile cortical hyperostosis
  61172008http://snomed.info/sctInfantile fucosidosis
  52083000http://snomed.info/sctInfantile lobar overinflation of lung
  782886007http://snomed.info/sctInfantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
  238867003http://snomed.info/sctInfantile systemic hyalinosis
  253313009http://snomed.info/sctInferior vena cava interruption with left sided hemiazygos continuation
  253314003http://snomed.info/sctInferior vena cava interruption with right sided azygos continuation
  414494005http://snomed.info/sctInfertility due to testicular hypoplasia
  782887003http://snomed.info/sctInherited congenital spastic tetraplegia
  764960005http://snomed.info/sctInherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
  725906006http://snomed.info/sctIntellectual disability Buenos Aires type
  726709001http://snomed.info/sctIntellectual disability, cataract, calcified pinna, myopathy syndrome
  770750002http://snomed.info/sctIntellectual disability, seizures, macrocephaly, obesity syndrome
  253681005http://snomed.info/sctInterrupted aortic arch distal to left subclavian artery
  472102006http://snomed.info/sctInterruption of aortic arch between subclavian artery and common carotid artery
  204153003http://snomed.info/sctIrido-corneo-trabecular dysgenesis
  766708008http://snomed.info/sctIsochromosomy Yp
  1231746006http://snomed.info/sctIsolated agenesis of cerebellar vermis
  1285319006http://snomed.info/sctIsolated aplasia of optic nerve
  718691008http://snomed.info/sctIsolated cryptophthalmos
  253698005http://snomed.info/sctIsolation of brachiocephalic trunk
  253335001http://snomed.info/sctIsomerism of atrial appendages
  722006004http://snomed.info/sctIsotretinoin-like syndrome
  722019000http://snomed.info/sctIVIC syndrome
  715438008http://snomed.info/sctJacobsen syndrome
  74650009http://snomed.info/sctJugular lymphatic obstruction sequence
  25792000http://snomed.info/sctKearns-Sayre syndrome
  763774001http://snomed.info/sctKeipert syndrome
  763775000http://snomed.info/sctKeratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome
  275264009http://snomed.info/sctKlinefelter's syndrome XXXXY
  275263003http://snomed.info/sctKlinefelter's syndrome XXXY
  1217225001http://snomed.info/sctKlippel-Feil anomaly, myopathy, facial dysmorphism syndrome
  5601008http://snomed.info/sctKlippel-Feil sequence
  770942003http://snomed.info/sctKostmann syndrome
  93623004http://snomed.info/sctLack of ossification of auditory ossicles
  93630005http://snomed.info/sctLack of ossification of centrum of lumbar vertebra
  93632002http://snomed.info/sctLack of ossification of centrum of thoracic vertebra
  93104005http://snomed.info/sctLack of ossification of ischium
  93106007http://snomed.info/sctLack of ossification of mandible
  93112002http://snomed.info/sctLack of ossification of parietal bone
  93119006http://snomed.info/sctLack of ossification of squamosal bone
  93126006http://snomed.info/sctLack of ossification of ulna
  732961003http://snomed.info/sctLambert syndrome
  1142092000http://snomed.info/sctLate congenital syphilitic osteochondropathy
  14637005http://snomed.info/sctLate-infantile neuronal ceroid lipofuscinosis
  88477005http://snomed.info/sctLateral developmental cyst of jaw
  232059000http://snomed.info/sctLaurence-Moon syndrome
  341461000119103http://snomed.info/sctLeft congenital combined form cataract
  449576007http://snomed.info/sctLeft pulmonary artery with absent proximal arterial connection
  253288009http://snomed.info/sctLeft sided atrium connecting to both ventricles
  253287004http://snomed.info/sctLeft sided atrium connecting to right ventricle
  253289001http://snomed.info/sctLeft sided atrium connecting to ventricle of indeterminate morphology
  41893002http://snomed.info/sctLeft ventricular-right atrial communication
  715420005http://snomed.info/sctLethal congenital contracture syndrome type 3
  719408007http://snomed.info/sctLethal omphalocele with cleft palate syndrome
  234583001http://snomed.info/sctLeucocyte adhesion deficiency - type 2
  733452000http://snomed.info/sctLeukoencephalopathy, dystonia, motor neuropathy syndrome
  56212008http://snomed.info/sctLeydig cell agenesis
  1003437009http://snomed.info/sctLeydig cell hypoplasia due to complete luteinising hormone receptor inactivation
  1234819007http://snomed.info/sctLimb girdle muscular dystrophy due to POMK deficiency
  782744007http://snomed.info/sctLipoic acid synthetase deficiency
  718720007http://snomed.info/sctLissencephaly type 3 metacarpal bone dysplasia syndrome
  773426004http://snomed.info/sctLMNA-related cardiocutaneous progeria syndrome
  722675000http://snomed.info/sctLOC syndrome
  721182004http://snomed.info/sctLong gap oesophageal atresia
  733454004http://snomed.info/sctLong thumb brachydactyly syndrome
  52837007http://snomed.info/sctLongitudinal deficiency of femur
  737266007http://snomed.info/sctLongitudinal deficiency of upper and lower limbs
  738164003http://snomed.info/sctLop ear deformity
  79385002http://snomed.info/sctLowe syndrome
  203943005http://snomed.info/sctLumbar spina bifida with hydrocephalus - open
  1003445004http://snomed.info/sctLumbosacral spina bifida aperta with hydrocephalus
  783089006http://snomed.info/sctMacrocephaly, intellectual disability, autism syndrome
  205343003http://snomed.info/sctMacrodactyly of toes - fatty nerve tumour
  205342008http://snomed.info/sctMacrodactyly of toes - simple
  4530000http://snomed.info/sctMadelung's deformity
  254171002http://snomed.info/sctMaleformatio ectodermalis generalisata of Bafverstedt
  773406003http://snomed.info/sctMandibular hypoplasia, deafness, progeroid syndrome
  109419009http://snomed.info/sctMandibuloacral dysostosis
  1003431005http://snomed.info/sctMandibuloacral dysplasia with type A lipodystrophy
  1003432003http://snomed.info/sctMandibuloacral dysplasia with type B lipodystrophy
  240050008http://snomed.info/sctManifesting female carrier of X-linked muscular dystrophy
  45615004http://snomed.info/sctManus cava
  69463008http://snomed.info/sctMaroteaux-Lamy syndrome
  67854007http://snomed.info/sctMaroteaux-Lamy syndrome, mild form
  1003395004http://snomed.info/sctMaternal uniparental disomy of chromosome 7
  717705004http://snomed.info/sctMayer-Rokitansky-Küster-Hauser syndrome type 2
  1003393006http://snomed.info/sctMedial deletion of chromosome 14
  1003394000http://snomed.info/sctMedial deletion of long arm of chromosome 2
  1003391008http://snomed.info/sctMedial deletion of long arm of chromosome 4
  1003392001http://snomed.info/sctMedial deletion of long arm of chromosome 5
  699700006http://snomed.info/sctMedian cleft lip and cleft of alveolar process of maxilla
  253904001http://snomed.info/sctMegacystis-megaureter syndrome
  60504009http://snomed.info/sctMegaloblastic anaemia due to congenital deficiency of intrinsic factor
  783246000http://snomed.info/sctMegalocornea, spherophakia, secondary glaucoma syndrome
  732263008http://snomed.info/sctMelhem Fahl syndrome
  1010609002http://snomed.info/sctMesomelic dysplasia of upper limb
  205481009http://snomed.info/sctMetachondromatosis
  28093001http://snomed.info/sctMethylene THF reductase deficiency AND homocystinuria
  1179283004http://snomed.info/sctMetopic ridging, ptosis, facial dysmorphism syndrome
  733472005http://snomed.info/sctMicrocephalus, glomerulonephritis, marfanoid habitus syndrome
  721881008http://snomed.info/sctMicroduplication Xp11.22p11.23 syndrome
  717222003http://snomed.info/sctMicrophthalmia with ankyloblepharon and intellectual disability syndrome
  720010009http://snomed.info/sctMicrophthalmia with brain atrophy syndrome
  1230344000http://snomed.info/sctMicrophthalmia, microtia, fetal akinesia syndrome
  1196871004http://snomed.info/sctMitochondrial respiratory chain complex III assembly gene defect
  253395003http://snomed.info/sctMitral valve dysplasia
  1228859008http://snomed.info/sctMixed cystic lymphatic malformation
  307691000119108http://snomed.info/sctMonostotic fibrous dysplasia of left femur
  109436001http://snomed.info/sctMoon's molar teeth
  715628009http://snomed.info/sctMORM syndrome
  783149002http://snomed.info/sctMosaic genome-wide paternal uniparental disomy
  764989007http://snomed.info/sctMosaic trisomy 9 syndrome
  724097003http://snomed.info/sctMoyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
  724096007http://snomed.info/sctMPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation
  65327002http://snomed.info/sctMucopolysaccharidosis, MPS-I-H
  26745009http://snomed.info/sctMucopolysaccharidosis, MPS-I-H/S
  55133004http://snomed.info/sctMulti-core congenital myopathy
  773643006http://snomed.info/sctMultiple congenital anomalies, hypotonia, seizures syndrome type 2
  766717008http://snomed.info/sctMultiple epiphyseal dysplasia due to collagen 9 anomaly
  768935003http://snomed.info/sctMultiple epiphyseal dysplasia Lowry type
  715672007http://snomed.info/sctMultiple epiphyseal dysplasia type 4
  763893008http://snomed.info/sctMultiple epiphyseal dysplasia with severe proximal femoral dysplasia
  1208485009http://snomed.info/sctMultiple mitochondrial dysfunctions syndrome type 1
  1208486005http://snomed.info/sctMultiple mitochondrial dysfunctions syndrome type 2
  277950001http://snomed.info/sctMuscle eye brain disease
  253564006http://snomed.info/sctMuscular ventricular septal defect in central trabecular septum
  253563000http://snomed.info/sctMuscular ventricular septal defect in inlet septum
  253566008http://snomed.info/sctMuscular ventricular septal defect in marginal septum
  4061000119104http://snomed.info/sctMyelomeningocele without hydrocephalus
  699316006http://snomed.info/sctMyhre syndrome
  1187514002http://snomed.info/sctMyopathic form of carnitine palmitoyltransferase II deficiency
  240083001http://snomed.info/sctMyopathy with type I hypotrophy
  15080006http://snomed.info/sctMyotubular myopathy with type I atrophy
  35962006http://snomed.info/sctNaevus comedonicus
  716775009http://snomed.info/sctNanophthalmia
  90516007http://snomed.info/sctNaso-labial cyst
  109400004http://snomed.info/sctNaso-maxillary dysostosis
  1162501001http://snomed.info/sctNatal teeth
  1237462006http://snomed.info/sctNDE1-related microhydranencephaly
  1179299005http://snomed.info/sctNEK9-related lethal skeletal dysplasia
  723440000http://snomed.info/sctNephrogenic syndrome of inappropriate antidiuresis
  1141661004http://snomed.info/sctNeurocutaneous melanosis
  725908007http://snomed.info/sctNeurofaciodigitorenal syndrome
  401046009http://snomed.info/sctNicolaides-Baraitser syndrome
  33979003http://snomed.info/sctNievergelt's syndrome
  1237228009http://snomed.info/sctNight blindness, skeletal anomalies, dysmorphism syndrome
  764997000http://snomed.info/sctNon-distal trisomy 9q
  723442008http://snomed.info/sctNon-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
  1187512003http://snomed.info/sctNon-syndromic mitochondrial sensorineural deafness
  448777006http://snomed.info/sctNoncoapting atrioventricular valve leaflet in atrioventricular septal defect
  703295003http://snomed.info/sctNoninvoluting congenital haemangioma
  205824006http://snomed.info/sctNoonan's syndrome
  19441002http://snomed.info/sctOccipital dysplasia
  1010685005http://snomed.info/sctOculo-auriculo-vertebral spectrum
  205802006http://snomed.info/sctOculo-palato-digital syndrome
  763815000http://snomed.info/sctOculoauricular syndrome Schorderet type
  1255268002http://snomed.info/sctOculocerebrodental syndrome
  254817005http://snomed.info/sctOculocutaneous melanocytic naevus
  770944002http://snomed.info/sctOculootodental syndrome
  699381006http://snomed.info/sctOculoskeletal dysplasia
  763828007http://snomed.info/sctOdonto onycho dysplasia with alopecia syndrome
  403764002http://snomed.info/sctOdontomicronychial ectodermal dysplasia
  773345007http://snomed.info/sctOligodontia and cancer predisposition syndrome
  77311006http://snomed.info/sctOmphaloangiopagus
  81771002http://snomed.info/sctOpitz-Frias syndrome
  254068007http://snomed.info/sctOpsismodysplasia
  722604002http://snomed.info/sctOptic disc dysplasia
  15191001http://snomed.info/sctOrigin of innominate artery from left side of aortic arch
  763837007http://snomed.info/sctOro-facial digital syndrome type 14
  239031000http://snomed.info/sctOrofacial-digital syndrome IV
  718681002http://snomed.info/sctOrofaciodigital syndrome type 11
  718680001http://snomed.info/sctOrofaciodigital syndrome type 9
  134219008http://snomed.info/sctOs trigonum
  7134007http://snomed.info/sctOsteogenesis imperfecta, dominant perinatal lethal
  86470003http://snomed.info/sctOsteogenesis imperfecta, recessive perinatal lethal
  254129003http://snomed.info/sctOsteopathia striata with cranial sclerosis
  871600007http://snomed.info/sctOutlet ventricular septal defect with posteriorly malaligned outlet septum
  722122000http://snomed.info/sctOvergrowth, macrocephaly, facial dysmorphism syndrome
  17527002http://snomed.info/sctOverriding skull bones
  253140003http://snomed.info/sctPartial agenesis of corpus callosum
  4397001http://snomed.info/sctPartial congenital duodenal obstruction
  773497001http://snomed.info/sctPartial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
  403460005http://snomed.info/sctPatent vitelline duct
  766719006http://snomed.info/sctPaternal uniparental disomy of chromosome 1
  770668007http://snomed.info/sctPaternal uniparental disomy of chromosome 13
  56108007http://snomed.info/sctPelvic kidney
  253734000http://snomed.info/sctPericardial diverticulum
  871602004http://snomed.info/sctPerimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum
  253552003http://snomed.info/sctPerimembranous ventricular septal defect with extension to right ventricular inlet
  722231005http://snomed.info/sctPerlman syndrome
  205353002http://snomed.info/sctPerodactylia of multiple toes
  609529006http://snomed.info/sctPersistent Blake's pouch cyst
  264480008http://snomed.info/sctPersistent Gartner's duct
  15986871000119102http://snomed.info/sctPersistent hyperplastic primary vitreous of right eye
  26730002http://snomed.info/sctPersistent thyroglossal duct
  62977003http://snomed.info/sctPersistent tunica vasculosa lentis
  264258007http://snomed.info/sctPersistent vertical vein
  53633000http://snomed.info/sctPeutz-Jeghers polyps of small bowel
  1187527003http://snomed.info/sctPEX13 deficiency
  1187528008http://snomed.info/sctPEX14 deficiency
  1187526007http://snomed.info/sctPEX16 deficiency
  1187524005http://snomed.info/sctPEX19 deficiency
  703286006http://snomed.info/sctPhakomatosis caesiomarmorata
  723453002http://snomed.info/sctPHAVER syndrome
  723461007http://snomed.info/sctPierre Robin sequence faciodigital anomaly syndrome
  21926007http://snomed.info/sctPili annulati
  771240009http://snomed.info/sctPilodental dysplasia, refractive errors syndrome
  771013004http://snomed.info/sctPilotto syndrome
  715727009http://snomed.info/sctPituitary stalk interruption syndrome
  9417000http://snomed.info/sctPlatelet dense granule deficiency
  7603007http://snomed.info/sctPlatyspondylia
  715710001http://snomed.info/sctPolydactyly of triphalangeal thumb
  774148007http://snomed.info/sctPolyglucosan body myopathy type 1
  8641000119101http://snomed.info/sctPolysplenia heterotaxy syndrome
  253680006http://snomed.info/sctPostductal hypoplasia of aorta
  698765007http://snomed.info/sctPosterior fossa brain malformation, haemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome
  724064004http://snomed.info/sctPosterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
  782755007http://snomed.info/sctPrimary microcephaly, mild intellectual disability, young-onset diabetes syndrome
  254193007http://snomed.info/sctProgressive junctional epidermolysis bullosa (neurotrophic)
  764739008http://snomed.info/sctProximal chromosome 18q deletion syndrome
  1003900006http://snomed.info/sctProximal deletion of long arm of chromosome 4
  1003914006http://snomed.info/sctProximal deletion of short arm of chromosome 1
  1003909007http://snomed.info/sctProximal duplication of chromosome 13
  1003905001http://snomed.info/sctProximal duplication of chromosome 21
  1003906000http://snomed.info/sctProximal duplication of long arm of chromosome 1
  1003878004http://snomed.info/sctProximal duplication of long arm of chromosome 16
  1003875001http://snomed.info/sctProximal duplication of long arm of chromosome 17
  1003868002http://snomed.info/sctProximal duplication of long arm of chromosome 18
  1003866003http://snomed.info/sctProximal duplication of long arm of chromosome 3
  1003867007http://snomed.info/sctProximal duplication of long arm of chromosome 4
  1003889006http://snomed.info/sctProximal duplication of short arm of chromosome 2
  205211001http://snomed.info/sctProximal femoral focal deficiency
  771262009http://snomed.info/sctPseudoleprechaunism syndrome Patterson type
  206370004http://snomed.info/sctPseudomonas pyocyaneus congenital infection
  770591002http://snomed.info/sctPseudounicornuate uterus
  449350006http://snomed.info/sctPulmonary artery with absent proximal arterial connection
  253624000http://snomed.info/sctPulmonary atresia with confluent pulmonary arteries
  766976003http://snomed.info/sctPulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome
  204467000http://snomed.info/sctPulmonary vein atresia
  447691009http://snomed.info/sctPulmonary venous confluence in direct proximity to left atrium
  77976003http://snomed.info/sctPygomelus
  67012005http://snomed.info/sctPyloric antral atresia
  78320000http://snomed.info/sctQuadricuspid cardiac valve
  458044005http://snomed.info/sctRachipagus
  85589009http://snomed.info/sctRadial aplasia-thrombocytopenia syndrome
  44215001http://snomed.info/sctRadiation chimera
  721882001http://snomed.info/sctRadioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
  52859009http://snomed.info/sctRathke's pouch cyst
  723500009http://snomed.info/sctRecessive aplasia cutis congenita of limbs
  239054009http://snomed.info/sctReticulate pigmented anomaly of flexures
  297267009http://snomed.info/sctRetrosternal thyroid gland
  56692003http://snomed.info/sctRhizomelic chondrodysplasia punctata syndrome
  1003860009http://snomed.info/sctRhizomelic chondrodysplasia punctata type 2
  770948004http://snomed.info/sctRhizomelic syndrome Urbach type
  109559009http://snomed.info/sctRiedel's lobe of liver
  253349005http://snomed.info/sctRight atrial hypoplasia
  445330003http://snomed.info/sctRight atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)
  335851000119101http://snomed.info/sctRight congenital combined form cataract
  47017007http://snomed.info/sctRing chromosome 1 syndrome
  770595006http://snomed.info/sctRing chromosome 12 syndrome
  23686004http://snomed.info/sctRing chromosome 20 syndrome
  13555004http://snomed.info/sctRing chromosome 22 syndrome
  765487008http://snomed.info/sctRing chromosome 5 syndrome
  763407008http://snomed.info/sctRing chromosome Y syndrome
  773404000http://snomed.info/sctRoifman syndrome
  186570004http://snomed.info/sctRubella deafness
  203944004http://snomed.info/sctSacral spina bifida with hydrocephalus - open
  254211001http://snomed.info/sctSalmon patch naevus
  250591000119109http://snomed.info/sctSalt-losing congenital adrenal hyperplasia with virilism
  239043004http://snomed.info/sctSandman-Andra syndrome
  723995003http://snomed.info/sctSchimke immuno-osseous dysplasia
  45390000http://snomed.info/sctSCID (severe combined immunodeficiency) due to absent IL-2 (interleukin-2) production
  1003917004http://snomed.info/sctSecondary congenital hyperplasia of lung
  248845002http://snomed.info/sctSeptate hymen
  36297009http://snomed.info/sctSeptate vagina affecting pregnancy
  716871006http://snomed.info/sctSevere combined immunodeficiency due to DNA dependent protein kinase catalytic subunit deficiency
  1179284005http://snomed.info/sctSevere combined immunodeficiency due to LAT deficiency
  190998001http://snomed.info/sctSevere combined immunodeficiency with low or normal B-cell numbers
  441190003http://snomed.info/sctSevere hereditary factor IX deficiency disease without inhibitor
  773419004http://snomed.info/sctSevere intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
  1208341008http://snomed.info/sctSevere oculo-renal-cerebellar syndrome
  721069005http://snomed.info/sctShort fifth metacarpal insulin resistance syndrome
  253855009http://snomed.info/sctShort preputial frenulum
  763890006http://snomed.info/sctShort stature with delayed bone age due to thyroid hormone metabolism deficiency
  719069008http://snomed.info/sctShprintzen-Goldberg syndrome
  127044007http://snomed.info/sctSickle cell-delta beta^0^-thalassaemia
  416484003http://snomed.info/sctSickle cell-haemoglobin E disease with crisis
  721076000http://snomed.info/sctSiegler Brewer Carey syndrome
  471276003http://snomed.info/sctSingle left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery
  447999009http://snomed.info/sctSingle ventricular outlet above left ventricle
  1172632008http://snomed.info/sctSIX2-related frontonasal dysplasia
  1177175008http://snomed.info/sctSkeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
  723624008http://snomed.info/sctSLC35A1 congenital disorder of glycosylation
  1187171005http://snomed.info/sctSLC39A8 congenital disorder of glycosylation
  715987000http://snomed.info/sctSonoda syndrome
  203954000http://snomed.info/sctSpina bifida with hydrocephalus of late onset
  203955004http://snomed.info/sctSpina bifida with stenosis of aqueduct of Sylvius
  733033001http://snomed.info/sctSpinocerebellar ataxia dysmorphism syndrome
  723611008http://snomed.info/sctSplit hand, split foot malformation with sensorineural hearing loss syndrome
  723610009http://snomed.info/sctSpondylocostal dysostosis with anal atresia and genitourinary malformation syndrome
  719165004http://snomed.info/sctSpondyloepimetaphyseal dysplasia aggrecan type
  782912001http://snomed.info/sctSpondylometaphyseal dysplasia A4 type
  782913006http://snomed.info/sctSpondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
  1269226006http://snomed.info/sctSpondylometaphyseal dysplasia, corneal dystrophy syndrome
  52604008http://snomed.info/sctSteroid 21-monooxygenase deficiency, simple virilising type
  19886006http://snomed.info/sctSturge-Weber syndrome
  95293000http://snomed.info/sctSupernumerary cervical vertebra
  49224008http://snomed.info/sctSupernumerary ear lobule
  95295007http://snomed.info/sctSupernumerary fused sternebra
  91844006http://snomed.info/sctSupernumerary gallbladder
  95297004http://snomed.info/sctSupernumerary liver lobe
  109427000http://snomed.info/sctSupracristal ventricular septal defect
  1230004003http://snomed.info/sctSupratip dysplasia
  765047006http://snomed.info/sctSURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4
  732955001http://snomed.info/sctSymphalangism with multiple anomalies of hands and feet
  1237344003http://snomed.info/sctSymptomatic form of fragile X syndrome in female carrier
  765197008http://snomed.info/sctSymptomatic form of muscular dystrophy of Duchenne and Becker in female carrier
  715723008http://snomed.info/sctSyndactyly type 1
  715724002http://snomed.info/sctSyndactyly type 2
  715725001http://snomed.info/sctSyndactyly type 3
  13262009http://snomed.info/sctSynechia vulvae
  471274000http://snomed.info/sctSystemic to pulmonary collateral artery contributing to dual lung supply
  460375006http://snomed.info/sctSystemic to pulmonary collateral artery from left renal artery
  723579009http://snomed.info/sctTangier disease
  719945007http://snomed.info/sctTaurodontia with absent teeth and sparse hair syndrome
  237920001http://snomed.info/sctTemperature-sensitive oculocutaneous albinism
  109397008http://snomed.info/sctTemporo-aural dysostosis
  719947004http://snomed.info/sctTemtamy syndrome
  53599007http://snomed.info/sctTesticular regression syndrome
  1010614003http://snomed.info/sctTetrasomy 5p mosaicism
  934007http://snomed.info/sctThalassaemia intermedia
  75451007http://snomed.info/sctThalassaemia major
  716740009http://snomed.info/sctThomas syndrome
  253867006http://snomed.info/sctThoracic kidney
  203942000http://snomed.info/sctThoracic spina bifida with hydrocephalus - open
  204004001http://snomed.info/sctThoracic spina bifida without hydrocephalus - open
  783003009http://snomed.info/sctThoracomelic dysplasia
  764857004http://snomed.info/sctTibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
  699256006http://snomed.info/sctTimothy syndrome type 1
  732252005http://snomed.info/sctTMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation
  74788000http://snomed.info/sctTongue absent
  771266007http://snomed.info/sctTorticollis, keloids, cryptorchidism, renal dysplasia syndrome
  24750000http://snomed.info/sctTownes syndrome
  205184006http://snomed.info/sctTransverse arrest metacarpal first ray
  205187004http://snomed.info/sctTransverse arrest phalangeal level first ray
  82203000http://snomed.info/sctTreacher Collins syndrome
  719948009http://snomed.info/sctTrigonocephaly with bifid nose and acral anomaly syndrome
  719949001http://snomed.info/sctTrigonocephaly with broad thumb syndrome
  733066002http://snomed.info/sctTrigonocephaly, short stature, developmental delay syndrome
  253888002http://snomed.info/sctTriplex ureter
  768929003http://snomed.info/sctTrisomy 8p syndrome
  254281006http://snomed.info/sctTurner's phenotype - ring chromosome karyotype
  449905001http://snomed.info/sctType III arteriovenous malformation of spinal cord
  254051008http://snomed.info/sctType III short rib polydactyly syndrome
  1010568002http://snomed.info/sctUndescended left testicle
  1010569005http://snomed.info/sctUndescended right testicle
  268228006http://snomed.info/sctUndescended testes - bilateral
  1187460003http://snomed.info/sctUnilateral multicystic renal dysplasia
  69729007http://snomed.info/sctUnilobar lung
  447919008http://snomed.info/sctUniventricular atrioventricular connection with absent right sided atrioventricular connection
  85150007http://snomed.info/sctUterus bicameratus vetularum
  54668008http://snomed.info/sctUterus biforis
  26287007http://snomed.info/sctUterus incudiformis
  277494001http://snomed.info/sctVascular loops of inner ear
  277495000http://snomed.info/sctVascular malformation of inner ear
  448630005http://snomed.info/sctVascular ring with left aortic arch and right patent arterial duct
  460590006http://snomed.info/sctVascular ring with right aortic arch and left arterial ligament with anomalous retroesophageal left subclavian artery
  719823007http://snomed.info/sctVentricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
  447286000http://snomed.info/sctVentricular imbalance with dominant right ventricle and hypoplastic left ventricle
  204312002http://snomed.info/sctVentricular septal defect between left ventricle and right atrium
  764697003http://snomed.info/sctVerloove Vanhorick Brubakk syndrome
  719824001http://snomed.info/sctVici syndrome
  237894002http://snomed.info/sctVitamin D-dependent rickets type II with alopecia
  237895001http://snomed.info/sctVitamin D-dependent rickets type II without alopecia
  72831007http://snomed.info/sctVitamin D-dependent rickets, type 2
  449866003http://snomed.info/sctVitreoretinal dysplasia
  46659004http://snomed.info/sctVon Hippel-Lindau syndrome
  1010606009http://snomed.info/sctWaardenburg syndrome type 1
  253852007http://snomed.info/sctWebbed penis
  715988005http://snomed.info/sctWellesley Carman French syndrome
  79665007http://snomed.info/sctWildervanck syndrome
  716335003http://snomed.info/sctWorster Drought syndrome
  771148008http://snomed.info/sctX-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
  1010628009http://snomed.info/sctX-linked congenital generalised hypertrichosis
  726106004http://snomed.info/sctX-linked diffuse leiomyomatosis with Alport syndrome
  719815005http://snomed.info/sctX-linked myopathy with excessive autophagy
  719816006http://snomed.info/sctX-linked sideroblastic anaemia with spinocerebellar ataxia
  764711007http://snomed.info/sctXq12-q13.3 duplication syndrome
  1229872004http://snomed.info/sctXq25 microduplication syndrome
  34513009http://snomed.info/sctZebra body myopathy
  88469006http://snomed.info/sctZellweger syndrome

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code