Australian Digital Health Agency FHIR Implementation Guide
1.2.0-ci-build - draft Australia flag

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 2024-09-12 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 31-Aug 2024

This value set contains 1,000 concepts

CodeSystemDisplay
  880081006http://snomed.info/sct12q15 deletion syndrome
  773547003http://snomed.info/sct13q12.3 microdeletion syndrome
  771439009http://snomed.info/sct14q22q23 microdeletion syndrome
  773494008http://snomed.info/sct14q24.1q24.3 microdeletion syndrome
  879939002http://snomed.info/sct14q32 deletion syndrome
  699254009http://snomed.info/sct15q13.3 microdeletion
  1251450006http://snomed.info/sct16p12.1p12.3 triplication syndrome
  768471006http://snomed.info/sct16p12.2 microdeletion syndrome
  770760006http://snomed.info/sct16q24.1 microdeletion syndrome
  764435003http://snomed.info/sct17q12 microduplication syndrome
  699306003http://snomed.info/sct1p36 deletion syndrome
  699305004http://snomed.info/sct1q21.1 microdeletion
  716515000http://snomed.info/sct1q41q42 microdeletion syndrome
  719657001http://snomed.info/sct2q23.1 microdeletion syndrome
  763062006http://snomed.info/sct2q33.1 microdeletion syndrome
  54470008http://snomed.info/sct3 beta-Hydroxysteroid dehydrogenase deficiency
  711409002http://snomed.info/sct3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like 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
  733621007http://snomed.info/sct46,XX disorder of sex development with skeletal anomalies syndrome
  879938005http://snomed.info/sct46,XY disorder of sex development due to environmental chemical exposure
  725289009http://snomed.info/sct5-amino-4-imidazole carboxamide ribosiduria
  764725008http://snomed.info/sct9p13 microdeletion syndrome
  1229875002http://snomed.info/sct9q21.13 microdeletion syndrome
  773493002http://snomed.info/sct9q31.1q31.3 microdeletion syndrome
  890130000http://snomed.info/sct9q34 deletion syndrome
  14921002http://snomed.info/sctAarskog syndrome
  14886009http://snomed.info/sctAbdominal heart
  109556002http://snomed.info/sctAberrant insertion of lingual frenulum
  205365003http://snomed.info/sctAberrant muscle of the lower limb
  718575002http://snomed.info/sctAblepharon macrostomia syndrome
  445898001http://snomed.info/sctAbnormal atrial arrangement
  871614007http://snomed.info/sctAbnormal intrapericardial course of great arteries
  253444004http://snomed.info/sctAbnormality of common atrioventricular valve chordae tendinae
  718574003http://snomed.info/sctAbruzzo Erickson syndrome
  449133000http://snomed.info/sctAbsence of pulmonary valve cusp
  253312004http://snomed.info/sctAbsent bridging vein
  253508006http://snomed.info/sctAbsent left atrioventricular valve papillary muscle
  771264005http://snomed.info/sctAbsent radius, anogenital anomalies syndrome
  15983471000119109http://snomed.info/sctAccessory auricle of left ear
  65048006http://snomed.info/sctAccessory parathyroid gland
  91847004http://snomed.info/sctAccessory sternebral ossification site
  253440008http://snomed.info/sctAccessory tissue on common atrioventricular valve leaflet
  35555009http://snomed.info/sctAccessory trachea
  91848009http://snomed.info/sctAcephaly
  718573009http://snomed.info/sctAchalasia microcephaly syndrome
  14870002http://snomed.info/sctAchondrogenesis, type IB
  472800001http://snomed.info/sctAcquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart
  403767009http://snomed.info/sctAcrocephalopolysyndactyly type II
  403768004http://snomed.info/sctAcrocephalopolysyndactyly type III
  720430002http://snomed.info/sctAcrofacial dysostosis Rodriguez type
  720456009http://snomed.info/sctAcromegaloid facial appearance syndrome
  720457000http://snomed.info/sctAcropectorovertebral dysplasia
  720458005http://snomed.info/sctAcrorenal syndrome
  1153413001http://snomed.info/sctAcute splenic sequestration of spleen due to sickle cell thalassaemia with crisis
  366951000119109http://snomed.info/sctAdolescent X-linked adrenoleukodystrophy
  253878003http://snomed.info/sctAdult type polycystic kidney disease type 1
  253879006http://snomed.info/sctAdult type polycystic kidney disease type 2
  205222002http://snomed.info/sctAgenesis of 1st metatarsal
  783230008http://snomed.info/sctAgenesis of body of uterus
  1163556006http://snomed.info/sctAgenesis of cervical vertebra
  699382004http://snomed.info/sctAgenesis of enamel
  1003575006http://snomed.info/sctAgenesis of epididymis
  205223007http://snomed.info/sctAgenesis of fifth metatarsal
  302953002http://snomed.info/sctAgenesis of gallbladder
  1003576007http://snomed.info/sctAgenesis of hyoid bone
  762912006http://snomed.info/sctAgenesis of left kidney co-occurrent with congenital dysplasia of right kidney
  253219005http://snomed.info/sctAgenesis of nasolacrimal duct
  204208005http://snomed.info/sctAgenesis of punctum lacrimale
  1003551006http://snomed.info/sctAgenesis of spleen
  1003573004http://snomed.info/sctAgenesis of sternebra
  403805009http://snomed.info/sctAlbinism-deafness syndrome of Tietz
  17234001http://snomed.info/sctAllantoic cyst
  720981000http://snomed.info/sctAlopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
  720980004http://snomed.info/sctAlopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome
  447275002http://snomed.info/sctAlveolar capillary dysplasia with pulmonary venous misalignment
  720983002http://snomed.info/sctAmaurosis hypertrichosis syndrome
  359531004http://snomed.info/sctAmegakaryocytic thrombocytopenia with congenital malformation
  64490002http://snomed.info/sctAnakatadidymus
  723991007http://snomed.info/sctAngio-osteohypertrophic syndrome
  765750001http://snomed.info/sctAngioosteohypotrophic syndrome
  773770009http://snomed.info/sctAnkyloblepharon filiforme adnatum with imperforate anus syndrome
  40315008http://snomed.info/sctAnnular pancreas
  204047001http://snomed.info/sctAnomalies of cerebellum
  253615009http://snomed.info/sctAnomalies of the aorta excluding coarction
  460890003http://snomed.info/sctAnomalous common origin of brachiocephalic artery and left common carotid artery
  461421007http://snomed.info/sctAnomalous coronary artery without acute angulation of less than 45 degrees relative to aorta
  461384000http://snomed.info/sctAnomalous course of coronary artery across right ventricular outflow tract
  253310007http://snomed.info/sctAnomalous insertion of right superior vena cava to left atrium
  461382001http://snomed.info/sctAnomalous intramural course of proximal portion of coronary artery across commissure of aortic valve
  461381008http://snomed.info/sctAnomalous intramural course of proximal portion of coronary artery within aortic sinus
  471289009http://snomed.info/sctAnomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus
  461435009http://snomed.info/sctAnomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus
  471287006http://snomed.info/sctAnomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus
  471288001http://snomed.info/sctAnomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus
  460930004http://snomed.info/sctAnomalous origin of left coronary artery from right coronary aortic sinus
  460524009http://snomed.info/sctAnomalous origin of right coronary artery from left anterior descending coronary artery
  460923005http://snomed.info/sctAnomalous origin of right coronary artery from left coronary artery aortic sinus
  460944005http://snomed.info/sctAnomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus
  29934004http://snomed.info/sctAnomalous pulmonary venous drainage to coronary sinus
  871612006http://snomed.info/sctAnterior muscular trabecular ventricular septal defect
  448946000http://snomed.info/sctAnterior-posterior orientation of bicuspid pulmonary valve
  447901004http://snomed.info/sctAortopulmonary window with tubular connection
  722989007http://snomed.info/sctAplasia of optic nerve
  54954004http://snomed.info/sctAspartylglucosaminuria
  389263004http://snomed.info/sctAstley-Kendall dysplasia
  51409009http://snomed.info/sctAsymmetric crying face association
  68504005http://snomed.info/sctAtaxia-telangiectasia syndrome
  725141006http://snomed.info/sctAtelosteogenesis type 1
  268205005http://snomed.info/sctAtresia and stenosis of large intestine, rectum and anal canal
  461567005http://snomed.info/sctAtresia of aortic arch with fibrous cord distal to subclavian artery
  447902006http://snomed.info/sctAtresia of left superior caval vein
  717835002http://snomed.info/sctAtresia of the oesophagus without tracheo-oesophageal fistula
  60732002http://snomed.info/sctAtrial septal defect with endocardial cushion defect, partial type
  725145002http://snomed.info/sctAtrial septal defect, atrioventricular conduction defect syndrome
  871616009http://snomed.info/sctAtrial situs inversus
  253422009http://snomed.info/sctAtrioventricular septal defect - ventricular component under inferior bridging leaflet
  448118003http://snomed.info/sctAtrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves
  448182006http://snomed.info/sctAtrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet
  840497008http://snomed.info/sctAtrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle
  1208418004http://snomed.info/sctAutosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation
  1231284001http://snomed.info/sctAutosomal dominant generalised dystrophic epidermolysis bullosa
  1255319004http://snomed.info/sctAutosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome
  1264041000http://snomed.info/sctAutosomal dominant osteopetrosis type 1
  765331004http://snomed.info/sctAutosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  1187115008http://snomed.info/sctAutosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
  770947009http://snomed.info/sctAutosomal dominant severe congenital neutropaenia
  240081004http://snomed.info/sctAutosomal recessive centronuclear myopathy
  1208417009http://snomed.info/sctAutosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation
  725434009http://snomed.info/sctAutosomal recessive faciodigitogenital syndrome
  719104003http://snomed.info/sctAutosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
  204152008http://snomed.info/sctAxenfeld anomaly
  417604002http://snomed.info/sctAxenfeld-Rieger syndrome
  253730009http://snomed.info/sctBalanced coronary system
  77608001http://snomed.info/sctBaller-Gerold syndrome
  1258972007http://snomed.info/sctBaraitser Winter cerebrofrontofacial syndrome
  725588002http://snomed.info/sctBathing suit ichthyosis
  81780002http://snomed.info/sctBeckwith-Wiedemann syndrome
  717859007http://snomed.info/sctBeemer Ertbruggen syndrome
  240080003http://snomed.info/sctBenign congenital hypotonia
  770787005http://snomed.info/sctBenign Samaritan congenital myopathy
  234460002http://snomed.info/sctBeta chain defect dysfibrinogenaemia
  47084006http://snomed.info/sctBeta plus thalassaemia normal haemoglobin A>2< type 1 silent
  191189009http://snomed.info/sctBeta thalassaemia intermedia
  718572004http://snomed.info/sctBethlem myopathy
  205828009http://snomed.info/sctBiemond's syndrome
  84557007http://snomed.info/sctBifid tongue
  461097005http://snomed.info/sctBilateral closed arterial ducts
  204614006http://snomed.info/sctBilateral complete cleft palate with cleft lip
  16007391000119103http://snomed.info/sctBilateral congenital abnormal fusion of carpal bones
  15988311000119102http://snomed.info/sctBilateral congenital abnormality of lacrimal drainage systems
  717703006http://snomed.info/sctBilateral congenital absence of ovary
  890412002http://snomed.info/sctBilateral congenital dacryocoele
  16009151000119103http://snomed.info/sctBilateral congenital dysplasia of upper limbs
  890381000http://snomed.info/sctBilateral congenital ectropion
  1162883007http://snomed.info/sctBilateral congenital instability of hip joints
  49813000http://snomed.info/sctBilateral congenital macrostomia
  12235641000119107http://snomed.info/sctBilateral congenital ptosis of upper eyelids
  349281000119109http://snomed.info/sctBilateral congenital zonular cataract
  840485007http://snomed.info/sctBilateral cornea plana
  253576006http://snomed.info/sctBilateral deficient infundibula
  890380004http://snomed.info/sctBilateral Madelung deformity
  253575005http://snomed.info/sctBilateral muscular infundibula
  890396001http://snomed.info/sctBilateral optic disc pitting
  15863971000119106http://snomed.info/sctBilateral preauricular regions cyst
  890424009http://snomed.info/sctBilateral secondary congenital hyperplasia of lung
  1003337005http://snomed.info/sctBilateral split foot
  1003339008http://snomed.info/sctBilateral split hand
  253311006http://snomed.info/sctBilateral superior vena cava
  715985008http://snomed.info/sctBinder syndrome
  8808004http://snomed.info/sctBiotinidase deficiency
  763128009http://snomed.info/sctBipartite talus
  715720006http://snomed.info/sctBrachydactyly type A1
  890438002http://snomed.info/sctBrachydactyly type A3
  715721005http://snomed.info/sctBrachydactyly type A4
  715722003http://snomed.info/sctBrachydactyly type A6
  770406002http://snomed.info/sctBrachydactyly type B2
  720572004http://snomed.info/sctBrachydactyly with syndactyly Zhao type
  720573009http://snomed.info/sctBrachymorphism with onychodysplasia and dysphalangism syndrome
  720574003http://snomed.info/sctBrachytelephalangy, facial dysmorphism, Kallmann syndrome
  720575002http://snomed.info/sctBraddock syndrome
  720576001http://snomed.info/sctBrain calcification Rajab type
  70756004http://snomed.info/sctBronchial atresia with segmental pulmonary emphysema
  253692006http://snomed.info/sctBronchopulmonary collateral artery
  253747005http://snomed.info/sctBronchopulmonary isomerism
  20491006http://snomed.info/sctCalcaneonavicular bar
  897534000http://snomed.info/sctCalcification of umbilical cord
  733045005http://snomed.info/sctCamptobrachydactyly
  720601000http://snomed.info/sctCamptodactyly and tall stature with scoliosis and hearing loss syndrome
  733466005http://snomed.info/sctCamptodactyly taurinuria syndrome
  720600004http://snomed.info/sctCamptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
  403769007http://snomed.info/sctCardio-acral-facial syndrome
  90500005http://snomed.info/sctCarnitine palmitoyltransferase deficiency
  238001003http://snomed.info/sctCarnitine palmitoyltransferase I deficiency
  238002005http://snomed.info/sctCarnitine palmitoyltransferase II deficiency
  722383001http://snomed.info/sctCatel Manzke syndrome
  444869007http://snomed.info/sctCavernous haemangioma of brain
  722385008http://snomed.info/sctCEDNIK syndrome
  204617004http://snomed.info/sctCentral incomplete cleft palate with cleft lip
  1538006http://snomed.info/sctCentral nervous system malformation in fetus affecting obstetrical care
  763353000http://snomed.info/sctCerebrofacioarticular syndrome
  720853005http://snomed.info/sctCernunnos-XLF deficiency
  203934001http://snomed.info/sctCervical spina bifida with hydrocephalus
  203941007http://snomed.info/sctCervical spina bifida with hydrocephalus - open
  35082008http://snomed.info/sctCervical thymic remnant
  890422008http://snomed.info/sctCervicothoracic spina bifida aperta with hydrocephalus
  88659005http://snomed.info/sctCheilognathoprosoposchisis
  367041000119108http://snomed.info/sctChildhood cerebral X-linked adrenoleukodystrophy
  890437007http://snomed.info/sctChondrodysplasia punctata due to maternal autoimmune disease
  720851007http://snomed.info/sctChondrodysplasia with disorder of sex development syndrome
  782882009http://snomed.info/sctChondrodysplasia with joint dislocations gPAPP type
  123651000http://snomed.info/sctChromosomal alterations of group F
  123652007http://snomed.info/sctChromosomal alterations of group G and Y
  699307007http://snomed.info/sctChromosome 16p11.2 deletion syndrome
  770407006http://snomed.info/sctChuvash erythrocytosis
  254197008http://snomed.info/sctCicatricial junctional epidermolysis bullosa
  890435004http://snomed.info/sctClassical phenylketonuria with partial deficiency of phenylalanine hydroxylase
  890436003http://snomed.info/sctClassical phenylketonuria with total deficiency of phenylalanine hydroxylase
  1255121003http://snomed.info/sctClassical-like Ehlers-Danlos syndrome type 2
  238736006http://snomed.info/sctClastothrix
  762586009http://snomed.info/sctCleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla
  762587000http://snomed.info/sctCleft hard and soft palate with left cleft lip and left alveolar process of maxilla
  762588005http://snomed.info/sctCleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla
  253993003http://snomed.info/sctCleft hard palate, central
  719471002http://snomed.info/sctCleidorhizomelic syndrome
  447903001http://snomed.info/sctCoarctation of right pulmonary artery
  254774003http://snomed.info/sctCobb's syndrome
  890434000http://snomed.info/sctCockayne syndrome type 2
  1179296003http://snomed.info/sctColobomatous macrophthalmia with microcornea syndrome
  238000002http://snomed.info/sctCombined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase
  307128009http://snomed.info/sctCombined long chain hydroxyacyl-CoA dehydrogenase deficiency
  253434001http://snomed.info/sctCommon atrioventricular valve limited to one ventricle
  871627006http://snomed.info/sctCommon atrium with common atrioventricular junction
  237945003http://snomed.info/sctComplete deficiency of methylmalonyl-CoA mutase
  55852007http://snomed.info/sctComplete phocomelia of lower limb
  51500006http://snomed.info/sctComplete trisomy 18 syndrome
  68454002http://snomed.info/sctComplete trisomy 8 syndrome
  447913009http://snomed.info/sctCompletely unroofed coronary sinus defect in left atrium
  449385006http://snomed.info/sctConfluent muscular ventricular septal defect
  92850004http://snomed.info/sctCongenital abnormal fusion of centrum of lumbar vertebra
  92860008http://snomed.info/sctCongenital abnormal fusion of ilium
  92862000http://snomed.info/sctCongenital abnormal fusion of ischium
  92863005http://snomed.info/sctCongenital abnormal fusion of lacrimal bone
  92864004http://snomed.info/sctCongenital abnormal fusion of liver lobes
  92876004http://snomed.info/sctCongenital abnormal fusion of squamosal bone
  92877008http://snomed.info/sctCongenital abnormal fusion of supraoccipital bone
  92879006http://snomed.info/sctCongenital abnormal fusion of tarsal bone
  783773000http://snomed.info/sctCongenital abnormal number of coronary ostia
  840486008http://snomed.info/sctCongenital abnormal retraction of bilateral eyelids
  92888002http://snomed.info/sctCongenital abnormal shape of aortic valve
  92900005http://snomed.info/sctCongenital abnormal shape of centrum of cervical vertebra
  92913004http://snomed.info/sctCongenital abnormal shape of gallbladder
  92916007http://snomed.info/sctCongenital abnormal shape of hyoid bone
  92927009http://snomed.info/sctCongenital abnormal shape of maxilla
  448947009http://snomed.info/sctCongenital abnormality of left atrioventricular valve in double inlet ventricle
  448063004http://snomed.info/sctCongenital abnormality of posterior cardiac vein of left ventricle
  840512003http://snomed.info/sctCongenital absence of all bilateral toes
  37221009http://snomed.info/sctCongenital absence of all toes
  87142002http://snomed.info/sctCongenital absence of appendix
  38919006http://snomed.info/sctCongenital absence of auricle with atresia of auditory canal
  897533006http://snomed.info/sctCongenital absence of bilateral radiuses
  818949005http://snomed.info/sctCongenital absence of body of uterus
  204285005http://snomed.info/sctCongenital absence of chin
  40272001http://snomed.info/sctCongenital absence of coronary sinus
  95464003http://snomed.info/sctCongenital absence of cranial vault
  204695006http://snomed.info/sctCongenital absence of duodenum
  840510006http://snomed.info/sctCongenital absence of epiglottis
  204575008http://snomed.info/sctCongenital absence of lung fissures
  73291005http://snomed.info/sctCongenital absence of parathyroid gland
  128064000http://snomed.info/sctCongenital absence of portal vein
  432993002http://snomed.info/sctCongenital absence of quadriceps muscle
  304971000119107http://snomed.info/sctCongenital absence of right lower leg and foot
  26865008http://snomed.info/sctCongenital absence of superior vena cava
  58010002http://snomed.info/sctCongenital absence of tibia AND fibula
  25148007http://snomed.info/sctCongenital absence of uvula
  84449007http://snomed.info/sctCongenital accessory skin tag
  447876009http://snomed.info/sctCongenital aneurysm of subaortic left ventricle
  1231169000http://snomed.info/sctCongenital anomaly of second branchial cleft
  105992002http://snomed.info/sctCongenital anomaly of tongue, salivary gland AND/OR pharynx
  42666000http://snomed.info/sctCongenital anomaly of tracheal cartilage
  10835701000119102http://snomed.info/sctCongenital anomaly of vulva in mother complicating pregnancy
  1232006http://snomed.info/sctCongenital articular rigidity with myopathy
  29345006http://snomed.info/sctCongenital atresia of ejaculatory duct
  39513007http://snomed.info/sctCongenital atresia of vas deferens
  92981007http://snomed.info/sctCongenital bent clavicle
  92984004http://snomed.info/sctCongenital bent ilium
  92991001http://snomed.info/sctCongenital bent ulna
  890397005http://snomed.info/sctCongenital bowing of ulna
  890398000http://snomed.info/sctCongenital bronchocele
  715989002http://snomed.info/sctCongenital cataract with intellectual disability and anal atresia and urinary defect syndrome
  722380003http://snomed.info/sctCongenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
  722381004http://snomed.info/sctCongenital cataract, nephropathy, encephalopathy syndrome
  715436007http://snomed.info/sctCongenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
  95465002http://snomed.info/sctCongenital claw toe
  1234911006http://snomed.info/sctCongenital cochleovestibular malformation
  95489009http://snomed.info/sctCongenital conjunctival cyst
  112871000119104http://snomed.info/sctCongenital contracture of toe joint
  840483000http://snomed.info/sctCongenital coronal cleft of vertebra
  726334003http://snomed.info/sctCongenital dacryocoele
  702360007http://snomed.info/sctCongenital deafness with labyrinthine aplasia, microtia and microdontia
  62578003http://snomed.info/sctCongenital defect of folate absorption
  27774009http://snomed.info/sctCongenital deformity of ankle joint
  448497000http://snomed.info/sctCongenital deformity of mitral valve annulus
  18132009http://snomed.info/sctCongenital deformity of sacroiliac joint
  93050005http://snomed.info/sctCongenital dilatation of aortic arch
  93061002http://snomed.info/sctCongenital dilatation of subclavian artery
  445106006http://snomed.info/sctCongenital dilation of left pulmonary artery
  70690000http://snomed.info/sctCongenital discoid meniscus
  205064009http://snomed.info/sctCongenital dislocation of knee grade I
  205065005http://snomed.info/sctCongenital dislocation of knee grade II
  253792003http://snomed.info/sctCongenital diverticulosis
  721647004http://snomed.info/sctCongenital diverticulosis of small intestine
  890383002http://snomed.info/sctCongenital diverticulum of large intestine
  28682004http://snomed.info/sctCongenital duplication of colon
  46907007http://snomed.info/sctCongenital duplication of gallbladder
  890385009http://snomed.info/sctCongenital duplication of gallbladder type 1
  13568007http://snomed.info/sctCongenital duplication of stomach
  59548005http://snomed.info/sctCongenital dyserythropoietic anaemia, type I
  68870007http://snomed.info/sctCongenital dyserythropoietic anaemia, type II
  230673001http://snomed.info/sctCongenital end-plate acetylcholine receptor deficiency
  37104009http://snomed.info/sctCongenital enlargement of coronary sinus
  1217625006http://snomed.info/sctCongenital expansion of orbit
  302955009http://snomed.info/sctCongenital extension contracture of the knee
  128063006http://snomed.info/sctCongenital extrahepatic portal-systemic shunt
  472778003http://snomed.info/sctCongenital extrapericardial cyst
  3886001http://snomed.info/sctCongenital faecaliths
  236759008http://snomed.info/sctCongenital familial idiopathic priapism
  92980008http://snomed.info/sctCongenital fenestration of alisphenoid bone
  1208416000http://snomed.info/sctCongenital fibre-type disproportion myopathy due to TPM3 mutation
  268288009http://snomed.info/sctCongenital generalised alopecia
  89689008http://snomed.info/sctCongenital genu valgum
  27943000http://snomed.info/sctCongenital glucose-galactose malabsorption
  1078151000119103http://snomed.info/sctCongenital hallux valgus of left great toe
  85280007http://snomed.info/sctCongenital hammer toe
  278929008http://snomed.info/sctCongenital hepatitis C infection
  417651000http://snomed.info/sctCongenital hereditary endothelial dystrophy
  417395001http://snomed.info/sctCongenital hereditary endothelial dystrophy type 2
  1217622009http://snomed.info/sctCongenital horizontal gaze palsy
  31290005http://snomed.info/sctCongenital hydroureter
  93232005http://snomed.info/sctCongenital hyperflexion of limb
  93234006http://snomed.info/sctCongenital hypertrophy of mitral valve
  93075009http://snomed.info/sctCongenital hypertrophy of pulmonary valve
  93077001http://snomed.info/sctCongenital hypertrophy of testis
  93076005http://snomed.info/sctCongenital hypertrophy of tricuspid valve
  93247001http://snomed.info/sctCongenital hypoplasia of cardiac ventricle
  93248006http://snomed.info/sctCongenital hypoplasia of carpal bone
  724071009http://snomed.info/sctCongenital hypoplasia of patella
  718690009http://snomed.info/sctCongenital hypothyroidism due to absence of thyroid gland
  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
  472777008http://snomed.info/sctCongenital intrapericardial cyst
  1254893000http://snomed.info/sctCongenital isolated onychodysplasia
  1141000119101http://snomed.info/sctCongenital labial adhesion
  1217623004http://snomed.info/sctCongenital lacrimal punctum membrane
  718219002http://snomed.info/sctCongenital lactic acidosis Saguenay-Lac-Saint-Jean type
  79801002http://snomed.info/sctCongenital leptomeningeal angiomatosis
  781159007http://snomed.info/sctCongenital levorotation of heart
  7964000http://snomed.info/sctCongenital listeriosis
  42780004http://snomed.info/sctCongenital lobulation of spleen
  1156306006http://snomed.info/sctCongenital lumbosacral spondylolisthesis
  27409004http://snomed.info/sctCongenital macrocheilia
  93352008http://snomed.info/sctCongenital malposition of sternebra
  93354009http://snomed.info/sctCongenital malposition of superior vena cava
  93364000http://snomed.info/sctCongenital malposition of ulna
  93365004http://snomed.info/sctCongenital malposition of vas deferens
  93367007http://snomed.info/sctCongenital malrotation of limb
  447875008http://snomed.info/sctCongenital mass of mitral leaflet
  721880009http://snomed.info/sctCongenital microgastria with limb reduction defect syndrome
  93379007http://snomed.info/sctCongenital misalignment of arch of sacral vertebra
  890395002http://snomed.info/sctCongenital muscular dystrophy type 1D large gene mutation
  771267003http://snomed.info/sctCongenital muscular dystrophy with integrin alpha-7 deficiency
  20305008http://snomed.info/sctCongenital myotonia, autosomal recessive form
  782332007http://snomed.info/sctCongenital negative ulnar variant of wrist
  363041004http://snomed.info/sctCongenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
  48980001http://snomed.info/sctCongenital obstruction of urethra
  762295002http://snomed.info/sctCongenital obstructive hydrocephalus
  1231209008http://snomed.info/sctCongenital orbital meningocele
  253758001http://snomed.info/sctCongenital palato-oesophageal incoordination
  205101001http://snomed.info/sctCongenital pectus carinatum
  713509006http://snomed.info/sctCongenital penile torsion
  1079661000119102http://snomed.info/sctCongenital pigmented melanocytic naevus of skin of left ear
  1079721000119100http://snomed.info/sctCongenital pigmented melanocytic naevus of skin of right lower limb
  128062001http://snomed.info/sctCongenital portal-systemic shunt
  1177173001http://snomed.info/sctCongenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
  19042000http://snomed.info/sctCongenital prolapse of urethra
  12235681000119102http://snomed.info/sctCongenital ptosis of left upper eyelid
  890394003http://snomed.info/sctCongenital pulmonary airway malformation type 0
  708022000http://snomed.info/sctCongenital pulmonary lymphatic dysplasia syndrome
  47082005http://snomed.info/sctCongenital rubella pneumonitis
  254040008http://snomed.info/sctCongenital sacrococcygeal anomaly
  253903007http://snomed.info/sctCongenital short urethra
  425871007http://snomed.info/sctCongenital spondylolisthesis of cervical vertebra
  232061009http://snomed.info/sctCongenital stationary night blindness
  770408001http://snomed.info/sctCongenital stenosis of cervical spinal canal
  1003443006http://snomed.info/sctCongenital stenosis of male external urethral orifice
  449135007http://snomed.info/sctCongenital stenosis of mitral subvalvular apparatus
  82458004http://snomed.info/sctCongenital stenosis of mitral valve
  840487004http://snomed.info/sctCongenital stenosis of spinal canal
  39476006http://snomed.info/sctCongenital stricture of rectum
  48337000http://snomed.info/sctCongenital stricture of urinary meatus
  472801002http://snomed.info/sctCongenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart
  41514002http://snomed.info/sctCongenital supravalvular mitral stenosis
  93404004http://snomed.info/sctCongenital thickening of ischium
  93405003http://snomed.info/sctCongenital thickening of pubis
  93406002http://snomed.info/sctCongenital thickening of radius
  93407006http://snomed.info/sctCongenital thickening of rib
  95467005http://snomed.info/sctCongenital tracheomalacia
  198273008http://snomed.info/sctCongenital vaginal enterocele
  773415005http://snomed.info/sctContiguous ABCD1 DXS1357E deletion syndrome
  720746006http://snomed.info/sctContracture with ectodermal dysplasia and orofacial cleft syndrome
  720747002http://snomed.info/sctCooks syndrome
  429641000124109http://snomed.info/sctCoronal hypospadias
  253324006http://snomed.info/sctCoronary sinus defect in left atrium
  253326008http://snomed.info/sctCoronary sinus orifice atresia
  732251003http://snomed.info/sctCortical blindness, intellectual disability, polydactyly syndrome
  1217229007http://snomed.info/sctCraniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
  205774003http://snomed.info/sctCraniopagus parasiticus
  1269224009http://snomed.info/sctCraniosynostosis, microretrognathia, severe intellectual disability syndrome
  253269002http://snomed.info/sctCriss-cross heart
  447289007http://snomed.info/sctCriss-cross heart with leftward rotation
  17827007http://snomed.info/sctCross syndrome
  253865003http://snomed.info/sctCrossed ectopia of kidney, without fusion
  770409009http://snomed.info/sctCrossed polysyndactyly
  702361006http://snomed.info/sctCrouzon syndrome with acanthosis nigricans
  111388003http://snomed.info/sctCutis laxa, autosomal dominant
  254222002http://snomed.info/sctCutis laxa, recessive, type I
  254223007http://snomed.info/sctCutis laxa, recessive, type II
  12770006http://snomed.info/sctCyanotic congenital heart disease
  732261005http://snomed.info/sctCyprus facial neuromusculoskeletal syndrome
  721812005http://snomed.info/sctCyst of paramesonephric duct
  13003007http://snomed.info/sctCystathioninuria
  389262009http://snomed.info/sctDappled diaphyseal dysplasia
  733069009http://snomed.info/sctDeafness, vitiligo, achalasia syndrome
  124141008http://snomed.info/sctDeficiency of L-lactate dehydrogenase (cytochrome)
  124680001http://snomed.info/sctDeficiency of methylmalonyl-CoA mutase
  441686004http://snomed.info/sctDelta phalanx of finger
  109494000http://snomed.info/sctDentin dysplasia, type II
  239041002http://snomed.info/sctDento-oculocutaneous syndrome
  1237225007http://snomed.info/sctDermatosparaxis Ehlers-Danlos syndrome
  15969009http://snomed.info/sctDesmiognathus
  27637000http://snomed.info/sctDextrocardia
  34643004http://snomed.info/sctDiaphyseal dysplasia
  58561002http://snomed.info/sctDiastrophic dysplasia
  458087008http://snomed.info/sctDicephalic parapagus
  774209001http://snomed.info/sctDidymosis aplasticosebacea
  703298001http://snomed.info/sctDiffuse lymphatic malformation
  715314008http://snomed.info/sctDigitotalar dysmorphism
  764696007http://snomed.info/sctDistal 17p13.3 microdeletion syndrome
  1208482007http://snomed.info/sctDistal arthrogryposis type 10
  897536003http://snomed.info/sctDistal deletion of long arm of chromosome 3
  897524009http://snomed.info/sctDistal deletion of short arm of chromosome 1
  897548000http://snomed.info/sctDistal duplication of chromosome 15
  449027007http://snomed.info/sctDistal origin of brachiocephalic artery with tracheal compression
  253696009http://snomed.info/sctDistal origin of brachiocephalic trunk
  897510005http://snomed.info/sctDistal trisomy 3q
  8634009http://snomed.info/sctDistichiasis-lymphoedema syndrome
  111389006http://snomed.info/sctDominant dystrophic epidermolysis bullosa
  75875004http://snomed.info/sctDominant dystrophic epidermolysis bullosa, albopapular type
  719800009http://snomed.info/sctDOORS syndrome
  447928009http://snomed.info/sctDouble aortic arch with balanced arches
  767311002http://snomed.info/sctDouble aortic arch with dominant right arch and hypoplasia of left arch
  77696009http://snomed.info/sctDouble aortic valve
  253209004http://snomed.info/sctDouble eyebrow
  253283000http://snomed.info/sctDouble inlet left ventricle
  253284006http://snomed.info/sctDouble inlet to ventricle of indeterminate morphology
  253441007http://snomed.info/sctDouble orifice of common atrioventricular valve
  447284002http://snomed.info/sctDouble outlet right ventricle with intact ventricular septum
  253299006http://snomed.info/sctDouble outlet right ventricle with noncommitted ventricular septal defect
  21346009http://snomed.info/sctDouble uterus affecting pregnancy
  50749006http://snomed.info/sctDouble Y syndrome
  871610003http://snomed.info/sctDoubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension
  871604003http://snomed.info/sctDoubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum
  871611004http://snomed.info/sctDoubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum
  279920004http://snomed.info/sctDuct of epoophoron
  723332005http://snomed.info/sctDuplication/inversion 15q11
  27642008http://snomed.info/sctDysmorphic sialidosis, congenital form
  722434004http://snomed.info/sctDysspondyloenchondromatosis
  403809003http://snomed.info/sctDystrophic epidermolysis bullosa inverse type
  722436002http://snomed.info/sctDystrophic epidermolysis bullosa nails only
  773548008http://snomed.info/sctEarly-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  253443005http://snomed.info/sctEbstein's anomaly of common atrioventricular valve
  253603005http://snomed.info/sctEccentric opening of aortic valve
  449123008http://snomed.info/sctEccentric opening of tricuspid aortic valve
  69664005http://snomed.info/sctEcchordosis physaliphora
  734018003http://snomed.info/sctEctodermal dysplasia trichoodontoonychial type
  31291009http://snomed.info/sctEctodermal dysplasia-ocular malformation syndrome
  722437006http://snomed.info/sctEctopia lentis, chorioretinal dystrophy, myopia syndrome
  5153001http://snomed.info/sctEctopic anus
  253746001http://snomed.info/sctEctopic bone and cartilage in lung
  61108006http://snomed.info/sctEctopic intestinal mucosa
  715318006http://snomed.info/sctEhlers-Danlos syndrome classic type
  1287094005http://snomed.info/sctEhlers-Danlos syndrome classic type 2
  720861000http://snomed.info/sctEhlers-Danlos syndrome progeroid type
  720863002http://snomed.info/sctEiken syndrome
  204311009http://snomed.info/sctEisenmenger's complex
  403819009http://snomed.info/sctElephantiasis neurofibromatosa
  268219005http://snomed.info/sctEmbryonic cyst of fallopian tube and broad ligament
  15959901000119101http://snomed.info/sctEmbryonic cyst of left Gartner's duct
  204021005http://snomed.info/sctEncephalomyelocele
  720864008http://snomed.info/sctEncephalopathy due to prosaposin deficiency
  1208480004http://snomed.info/sctEpibulbar lipodermoid, preauricular appendage, polythelia syndrome
  254180002http://snomed.info/sctEpidermolysis bullosa simplex with mottled pigmentation
  782937006http://snomed.info/sctExtensor tendons of finger anomalies
  29938001http://snomed.info/sctExtralobar bronchopulmonary sequestration
  10375008http://snomed.info/sctExtrapulmonary subpleural pulmonary sequestration
  723333000http://snomed.info/sctFaciocardiorenal syndrome
  33169001http://snomed.info/sctFactor XI deficiency, type II
  37495007http://snomed.info/sctFamilial adrenocortical hypoplasia
  1197365006http://snomed.info/sctFamilial cavitary optic disc anomaly
  238094003http://snomed.info/sctFamilial hypobetalipoproteinaemia - heterozygous form
  238093009http://snomed.info/sctFamilial hypobetalipoproteinaemia - homozygous form
  253864004http://snomed.info/sctFamilial hypoplastic, glomerulocystic kidney
  253168004http://snomed.info/sctFamilial megalencephaly
  1230098009http://snomed.info/sctFemur fibula ulna complex
  699251001http://snomed.info/sctFibrous dysplasia of bone with intramuscular myxoma
  239056006http://snomed.info/sctFlynn-Aird syndrome
  1003430006http://snomed.info/sctFocal cortical dysplasia type IIb
  789157007http://snomed.info/sctFocal facial dermal dysplasia type I
  109411007http://snomed.info/sctFronto-naso-ethmoidal dysostosis
  716108004http://snomed.info/sctFryns macrocephaly
  443379009http://snomed.info/sctFunctional single ventricle
  253509003http://snomed.info/sctFused left atrioventricular valve papillary muscles
  1186730002http://snomed.info/sctGabriele-de Vries syndrome
  234461003http://snomed.info/sctGamma chain defect dysfibrinogenaemia
  788944005http://snomed.info/sctGamma delta beta thalassaemia
  60876000http://snomed.info/sctGardner syndrome
  819950002http://snomed.info/sctGeneralised glucocorticoid resistance syndrome
  254194001http://snomed.info/sctGeneralised junctional epidermolysis bullosa
  403808006http://snomed.info/sctGeneralised recessive non-mutilating dystrophic epidermolysis bullosa
  770631009http://snomed.info/sctGenetic transient congenital hypothyroidism
  725904009http://snomed.info/sctGenochondromatosis type 2
  254116003http://snomed.info/sctGeroderma osteodysplastica
  235111007http://snomed.info/sctGlandular odontogenic cyst
  1222658006http://snomed.info/sctGlobal developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
  78753008http://snomed.info/sctGlobulo-maxillary cyst
  722302009http://snomed.info/sctGlycogen storage disease due to acid maltase deficiency, infantile onset
  11179002http://snomed.info/sctGlycogen storage disease, type IV
  29291001http://snomed.info/sctGlycogen storage disease, type VI
  205418005http://snomed.info/sctGoldenhar syndrome
  205800003http://snomed.info/sctGorlin-Chaudhry-Moss syndrome
  77542002http://snomed.info/sctGrebe syndrome
  1254947002http://snomed.info/sctGriscelli syndrome type 3
  685091000119101http://snomed.info/sctHaemoglobin D beta zero thalassaemia
  416180004http://snomed.info/sctHaemoglobin SS disease without crisis
  702425002http://snomed.info/sctHand-foot-genital syndrome
  73331006http://snomed.info/sctHemimyelia
  771149000http://snomed.info/sctHepatic fibrosis, renal cyst, intellectual disability syndrome
  57835009http://snomed.info/sctHepatic methionine adenosyltransferase deficiency
  449016005http://snomed.info/sctHepatic vein to left atrium and right atrium
  449014008http://snomed.info/sctHepatic vein to left sided atrium
  449015009http://snomed.info/sctHepatic vein to right sided atrium
  724361001http://snomed.info/sctHepatic veno-occlusive disease with immunodeficiency syndrome
  1296959007http://snomed.info/sctHereditary butyrylcholinesterase deficiency
  238855000http://snomed.info/sctHereditary camptodactyly
  717003001http://snomed.info/sctHereditary cavernous haemangioma of brain
  239055005http://snomed.info/sctHereditary clubbing
  5994005http://snomed.info/sctHereditary elliptocytosis due to deficiency of protein 4.1
  726079008http://snomed.info/sctHereditary hypercarotenaemia and vitamin A deficiency
  724351008http://snomed.info/sctHereditary hyperekplexia
  403442005http://snomed.info/sctHereditary mucoepithelial dysplasia
  191201002http://snomed.info/sctHereditary persistence of fetal haemoglobin
  783254003http://snomed.info/sctHereditary persistence of fetal haemoglobin with sickle cell disease syndrome
  438827002http://snomed.info/sctHereditary thrombophilic dysfibrinogenaemia
  201698009http://snomed.info/sctHexadactyly
  65573001http://snomed.info/sctHigh assimilation pelvis
  721221000http://snomed.info/sctHirschsprung disease with deafness and polydactyly syndrome
  721223002http://snomed.info/sctHirschsprung disease with nail hypoplasia and dysmorphism
  721222007http://snomed.info/sctHirschsprung disease with type D brachydactyly syndrome
  725286002http://snomed.info/sctHMG-CoA synthase deficiency
  715434005http://snomed.info/sctHoloprosencephaly craniosynostosis syndrome
  771146007http://snomed.info/sctHoloprosencephaly with caudal dysgenesis syndrome
  1153399000http://snomed.info/sctHomozygous hereditary elliptocytosis
  240554006http://snomed.info/sctHutchinson's triad
  721234004http://snomed.info/sctHyperinsulinism due to HNF1A deficiency
  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
  205483007http://snomed.info/sctHypochondrogenesis
  773665006http://snomed.info/sctHypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
  860820000http://snomed.info/sctHypoplasia of cranial sinus
  707679005http://snomed.info/sctHypoplasia of first permanent molar tooth
  1418007http://snomed.info/sctHypoplastic chondrodystrophy
  400036004http://snomed.info/sctHypoplastic enamel-onycholysis-hypohidrosis syndrome
  763658004http://snomed.info/sctHypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome
  254170001http://snomed.info/sctIchthyosis hystrix of Curth-Macklin
  763404001http://snomed.info/sctIchthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
  72262000http://snomed.info/sctInborn error of glutathione metabolism
  16904009http://snomed.info/sctIncomplete congenital absence of thigh AND leg
  70583001http://snomed.info/sctIncomplete development of membranous labyrinth
  763498007http://snomed.info/sctIncomplete left cleft lip and incomplete cleft of left alveolar process of maxilla
  763499004http://snomed.info/sctIncomplete right cleft lip and incomplete cleft of right alveolar process of maxilla
  238026007http://snomed.info/sctInfantile GM1 gangliosidosis
  52083000http://snomed.info/sctInfantile lobar overinflation of lung
  253314003http://snomed.info/sctInferior vena cava interruption with right sided azygos continuation
  449435001http://snomed.info/sctInfracardiac location of anomalous pulmonary venous connection with two descending veins
  725905005http://snomed.info/sctInfundibulopelvic stenosis multicystic kidney syndrome
  871588007http://snomed.info/sctInnominate artery compression syndrome
  725906006http://snomed.info/sctIntellectual disability Buenos Aires type
  722002002http://snomed.info/sctIntellectual disability, balding, patella luxation, acromicria syndrome
  782753000http://snomed.info/sctIntellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
  773416006http://snomed.info/sctIntellectual disability, facial dysmorphism, hand anomalies syndrome
  871625003http://snomed.info/sctIntermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves
  405287008http://snomed.info/sctIntermediate maple syrup urine disease
  405288003http://snomed.info/sctIntermittent maple syrup urine disease
  52724003http://snomed.info/sctIodide oxidation defect
  204153003http://snomed.info/sctIrido-corneo-trabecular dysgenesis
  204154009http://snomed.info/sctIrido-trabecular dysgenesis
  1231746006http://snomed.info/sctIsolated agenesis of cerebellar vermis
  717963001http://snomed.info/sctIsolated anterior cervical hypertrichosis
  771147003http://snomed.info/sctIsolated arhinencephaly
  307127004http://snomed.info/sctIsolated long chain hydroxyacyl-CoA dehydrogenase deficiency
  253698005http://snomed.info/sctIsolation of brachiocephalic trunk
  253699002http://snomed.info/sctIsolation of common carotid artery
  445109004http://snomed.info/sctIsolation of left common carotid artery
  709105005http://snomed.info/sctJackson-Weiss syndrome
  61367005http://snomed.info/sctJarcho-Levin syndrome
  74650009http://snomed.info/sctJugular lymphatic obstruction sequence
  400140006http://snomed.info/sctJunctional epidermolysis bullosa gravis of Herlitz
  254196004http://snomed.info/sctJunctional epidermolysis bullosa mitis
  722027009http://snomed.info/sctKallman syndrome with heart disease
  25792000http://snomed.info/sctKearns-Sayre syndrome
  721105004http://snomed.info/sctKlippel Trenaunay syndrome
  30278004http://snomed.info/sctKundrat's syndrome
  93100001http://snomed.info/sctLack of ossification of humerus
  93101002http://snomed.info/sctLack of ossification of hyoid bone
  93102009http://snomed.info/sctLack of ossification of ilium
  93103004http://snomed.info/sctLack of ossification of interparietal bone
  93105006http://snomed.info/sctLack of ossification of lacrimal bone
  93115000http://snomed.info/sctLack of ossification of pubis
  93116004http://snomed.info/sctLack of ossification of radius
  93117008http://snomed.info/sctLack of ossification of rib
  93118003http://snomed.info/sctLack of ossification of scapula
  253152005http://snomed.info/sctLaminar heterotopia
  41069008http://snomed.info/sctLanger-Giedion syndrome
  206434001http://snomed.info/sctLate anaemia of newborn due to isoimmunisation
  827006http://snomed.info/sctLate congenital syphilis, latent (positive serology - CSF, 2 years or more)
  1142031005http://snomed.info/sctLate congenital syphilitic optic atrophy
  253286008http://snomed.info/sctLeft sided atrium connecting to left ventricle
  253287004http://snomed.info/sctLeft sided atrium connecting to right ventricle
  111307005http://snomed.info/sctLeprechaunism syndrome
  715565004http://snomed.info/sctLethal arthrogryposis with anterior horn cell disease
  254183000http://snomed.info/sctLethal autosomal recessive epidermolysis bullosa simplex
  1229876001http://snomed.info/sctLethal brain and heart developmental defects syndrome
  715420005http://snomed.info/sctLethal congenital contracture syndrome type 3
  719409004http://snomed.info/sctLethal Larsen-like syndrome
  719404009http://snomed.info/sctLethal recessive chondrodysplasia
  733452000http://snomed.info/sctLeukoencephalopathy, dystonia, motor neuropathy syndrome
  763366000http://snomed.info/sctLeukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
  763668009http://snomed.info/sctLichtenstein syndrome
  104431000119107http://snomed.info/sctLipomyelomeningocele
  718759003http://snomed.info/sctLissencephaly due to TUBA1A (tubulin alpha 1A) mutation
  717977003http://snomed.info/sctLissencephaly syndrome Norman Roberts type
  447917005http://snomed.info/sctLiver in central position
  254186008http://snomed.info/sctLocalised dystrophic epidermolysis bullosa
  721182004http://snomed.info/sctLong gap oesophageal atresia
  41895009http://snomed.info/sctLongitudinal deficiency of carpal bone
  52837007http://snomed.info/sctLongitudinal deficiency of femur
  61900003http://snomed.info/sctLongitudinal deficiency of radius
  59352006http://snomed.info/sctLongitudinal deficiency of radius AND ulna
  70902004http://snomed.info/sctLongitudinal deficiency of upper limb
  203943005http://snomed.info/sctLumbar spina bifida with hydrocephalus - open
  1003445004http://snomed.info/sctLumbosacral spina bifida aperta with hydrocephalus
  763773007http://snomed.info/sctMacrocephaly and developmental delay syndrome
  783089006http://snomed.info/sctMacrocephaly, intellectual disability, autism syndrome
  1187642008http://snomed.info/sctMacrocephaly, intellectual disability, left ventricular non compaction syndrome
  205343003http://snomed.info/sctMacrodactyly of toes - fatty nerve tumour
  95503005http://snomed.info/sctMacropalpebral fissure
  46041001http://snomed.info/sctMaffucci syndrome
  461433002http://snomed.info/sctMajor systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation
  461434008http://snomed.info/sctMajor systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation
  733450008http://snomed.info/sctMAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation
  1003431005http://snomed.info/sctMandibuloacral dysplasia with type A lipodystrophy
  1231141008http://snomed.info/sctMannosephosphate isomerase congenital disorder of glycosylation
  732262003http://snomed.info/sctMarfanoid syndrome De Silva type
  254234005http://snomed.info/sctMarie Unna syndrome
  715735007http://snomed.info/sctMaternal uniparental disomy of chromosome 20
  766240006http://snomed.info/sctMaternal uniparental disomy of chromosome 9
  109398003http://snomed.info/sctMaxillary dysostosis
  717705004http://snomed.info/sctMayer-Rokitansky-Küster-Hauser syndrome type 2
  1003394000http://snomed.info/sctMedial deletion of long arm of chromosome 2
  699700006http://snomed.info/sctMedian cleft lip and cleft of alveolar process of maxilla
  253904001http://snomed.info/sctMegacystis-megaureter syndrome
  1260143005http://snomed.info/sctMegalencephaly, severe kyphoscoliosis, overgrowth syndrome
  783246000http://snomed.info/sctMegalocornea, spherophakia, secondary glaucoma syndrome
  253905000http://snomed.info/sctMegalourethra
  716199000http://snomed.info/sctMehes syndrome
  732263008http://snomed.info/sctMelhem Fahl syndrome
  13449007http://snomed.info/sctMelnick-Needles syndrome
  16467261000119106http://snomed.info/sctMelorheostosis of left lower leg
  1260095004http://snomed.info/sctMenke Hennekam syndrome
  766715000http://snomed.info/sctMetabolic myopathy due to lactate transporter defect
  297278001http://snomed.info/sctMetachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
  13144005http://snomed.info/sctMethylcrotonyl-CoA carboxylase deficiency
  1179283004http://snomed.info/sctMetopic ridging, ptosis, facial dysmorphism syndrome
  94684003http://snomed.info/sctMicroblepharia
  1187195007http://snomed.info/sctMicrocephalic cortical malformations, short stature due to RTTN deficiency
  763798008http://snomed.info/sctMicrocephalus, complex motor and sensory axonal neuropathy syndrome
  719378009http://snomed.info/sctMicrocephaly with brachydactyly and kyphoscoliosis syndrome
  719379001http://snomed.info/sctMicrocephaly with cardiac defect and lung malsegmentation syndrome
  94685002http://snomed.info/sctMicrodactyly
  253167009http://snomed.info/sctMicrodysgenesis
  724139004http://snomed.info/sctMicrotia, eye coloboma, imperforation of nasolacrimal duct syndrome
  1156317007http://snomed.info/sctMild androgen insensitivity syndrome
  23156007http://snomed.info/sctMild maple syrup urine disease
  715670004http://snomed.info/sctMild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
  389159004http://snomed.info/sctMild spondyloepiphyseal dysplasia with premature onset arthrosis
  253338004http://snomed.info/sctMirror imaged atria
  1255267007http://snomed.info/sctMirror-image polydactyly
  253271002http://snomed.info/sctMirror-imaged heart
  1237514002http://snomed.info/sctMitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
  1196872006http://snomed.info/sctMitochondrial respiratory chain complex I structural subunit gene defect
  1196873001http://snomed.info/sctMitochondrial respiratory chain complex II assembly gene defect
  128100009http://snomed.info/sctMixed alpha granule and dense body deficiency
  79702003http://snomed.info/sctMonocephalus tetrapus dibrachius
  54073003http://snomed.info/sctMonocuspid cardiac valve
  766716004http://snomed.info/sctMonosomy 13q34
  109714003http://snomed.info/sctMonostotic fibrous dysplasia of periradicular alveolar bone
  764619001http://snomed.info/sctMosaic trisomy 15 syndrome
  205708001http://snomed.info/sctMosaic XO/XX
  205707006http://snomed.info/sctMosaic XO/XY
  788417006http://snomed.info/sctMoynahan syndrome
  43916004http://snomed.info/sctMucopolysaccharidosis, MPS-VII
  204166003http://snomed.info/sctMultiple anterior segment anomalies
  766717008http://snomed.info/sctMultiple epiphyseal dysplasia due to collagen 9 anomaly
  313339007http://snomed.info/sctMultiple epiphyseal dysplasia tarda type IIIa
  111306001http://snomed.info/sctMultiple lentigines syndrome
  1208485009http://snomed.info/sctMultiple mitochondrial dysfunctions syndrome type 1
  1279890001http://snomed.info/sctMultiple mitochondrial dysfunctions syndrome type 5
  1279891002http://snomed.info/sctMultiple mitochondrial dysfunctions syndrome type 6
  71009001http://snomed.info/sctMultiseptate gallbladder
  277950001http://snomed.info/sctMuscle eye brain disease
  61772003http://snomed.info/sctMuscle phosphoglycerate mutase deficiency
  253564006http://snomed.info/sctMuscular ventricular septal defect in central trabecular septum
  253566008http://snomed.info/sctMuscular ventricular septal defect in marginal septum
  1251451005http://snomed.info/sctMYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
  35962006http://snomed.info/sctNaevus comedonicus
  254064009http://snomed.info/sctNamaqualand hip dysplasia
  90516007http://snomed.info/sctNaso-labial cyst
  1230269002http://snomed.info/sctNasolacrimal duct cyst
  1179299005http://snomed.info/sctNEK9-related lethal skeletal dysplasia
  254221009http://snomed.info/sctNeonatal cutis laxa with marfanoid phenotype
  1187511005http://snomed.info/sctNeonatal form of carnitine palmitoyltransferase II deficiency
  763839005http://snomed.info/sctNeonatal Marfan syndrome
  230794008http://snomed.info/sctNeuronal choristoma
  55602000http://snomed.info/sctNezelof's syndrome
  67855008http://snomed.info/sctNiemann-Pick disease, type C, subacute form
  253151003http://snomed.info/sctNodular heterotopia
  1187512003http://snomed.info/sctNon-syndromic mitochondrial sensorineural deafness
  19441002http://snomed.info/sctOccipital dysplasia
  716174001http://snomed.info/sctOculocerebral hypopigmentation syndrome of Preus type
  1255268002http://snomed.info/sctOculocerebrodental syndrome
  74307005http://snomed.info/sctOpodidymus
  1231206001http://snomed.info/sctOrbital meningoencephalocele
  15191001http://snomed.info/sctOrigin of innominate artery from left side of aortic arch
  239030004http://snomed.info/sctOrofacial-digital syndrome III
  718681002http://snomed.info/sctOrofaciodigital syndrome type 11
  254102008http://snomed.info/sctOsteodysplastic primordial dwarfism, type 1
  1237513008http://snomed.info/sctOsteosclerotic metaphyseal dysplasia
  871600007http://snomed.info/sctOutlet ventricular septal defect with posteriorly malaligned outlet septum
  223726008http://snomed.info/sctPachydermoperiostosis of nail
  40158001http://snomed.info/sctPapillon-Lefèvre syndrome
  253391007http://snomed.info/sctParachute malformation of tricuspid valve
  253140003http://snomed.info/sctPartial agenesis of corpus callosum
  253731008http://snomed.info/sctPartial agenesis of pericardium
  122811000119101http://snomed.info/sctPartial androgen insensitivity syndrome
  447860000http://snomed.info/sctPartial anomalous pulmonary venous connection of part of right lung
  447861001http://snomed.info/sctPartial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence
  237946002http://snomed.info/sctPartial deficiency of methylmalonyl-CoA mutase
  461091006http://snomed.info/sctPatent right arterial duct
  715736008http://snomed.info/sctPaternal uniparental disomy of chromosome 20
  783718003http://snomed.info/sctPaternal uniparental disomy of chromosome X
  56108007http://snomed.info/sctPelvic kidney
  70348004http://snomed.info/sctPendred's syndrome
  1003879007http://snomed.info/sctPenile megalourethra
  204889008http://snomed.info/sctPenoscrotal hypospadias
  95500008http://snomed.info/sctPersistent pupillary membranes
  1187528008http://snomed.info/sctPEX14 deficiency
  1187524005http://snomed.info/sctPEX19 deficiency
  1187525006http://snomed.info/sctPEX2 deficiency
  1187522009http://snomed.info/sctPEX26 deficiency
  1187523004http://snomed.info/sctPEX3 deficiency
  1003916008http://snomed.info/sctPfeiffer syndrome type 2
  1003918009http://snomed.info/sctPfeiffer syndrome type 3
  783717008http://snomed.info/sctPGM1-CDG
  703284009http://snomed.info/sctPhakomatosis cesioflammea
  703285005http://snomed.info/sctPhakomatosis spilorosea
  253963009http://snomed.info/sctPhocomelia of lower limb
  403807001http://snomed.info/sctPhylloid hypomelanosis
  1230005002http://snomed.info/sctPigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
  723450004http://snomed.info/sctPigmented paravenous retinochoroidal atrophy
  723451000http://snomed.info/sctPili torti onychodysplasia syndrome
  715727009http://snomed.info/sctPituitary stalk interruption syndrome
  1228849007http://snomed.info/sctPolyglucosan body myopathy type 2
  17471001http://snomed.info/sctPolyorchism
  36517007http://snomed.info/sctPolyostotic fibrous dysplasia of bone
  782884005http://snomed.info/sctPontine tegmental cap dysplasia
  718610008http://snomed.info/sctPontocerebellar hypoplasia type 1
  718611007http://snomed.info/sctPontocerebellar hypoplasia type 8
  403765001http://snomed.info/sctPort-wine stain in Rubinstein-Taybi syndrome
  770946000http://snomed.info/sctPostaxial tetramelic oligodactyly
  448786001http://snomed.info/sctPosterior deviation of infundibular septum of obstructive aortic arch type
  1955003http://snomed.info/sctPreauricular dimple
  204272007http://snomed.info/sctPreauricular fistula
  13867009http://snomed.info/sctPreductal coarctation of aorta
  419544009http://snomed.info/sctPrimary lens coloboma
  302811004http://snomed.info/sctProgressive congenital rubella encephalomyelitis
  1260130005http://snomed.info/sctProgressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
  254065005http://snomed.info/sctProgressive pseudorheumatoid dysplasia
  1003929008http://snomed.info/sctProximal deletion of long arm of chromosome 11
  1003903008http://snomed.info/sctProximal deletion of long arm of chromosome 16
  1003904002http://snomed.info/sctProximal deletion of long arm of chromosome 17
  1003901005http://snomed.info/sctProximal deletion of long arm of chromosome 18
  1003915007http://snomed.info/sctProximal deletion of short arm of chromosome 3
  1003906000http://snomed.info/sctProximal duplication of long arm of chromosome 1
  1003876000http://snomed.info/sctProximal duplication of long arm of chromosome 12
  1003878004http://snomed.info/sctProximal duplication of long arm of chromosome 16
  1003864000http://snomed.info/sctProximal duplication of long arm of chromosome 5
  1003865004http://snomed.info/sctProximal duplication of long arm of chromosome 6
  205211001http://snomed.info/sctProximal femoral focal deficiency
  715867000http://snomed.info/sctPseudoaminopterin syndrome
  206370004http://snomed.info/sctPseudomonas pyocyaneus congenital infection
  770591002http://snomed.info/sctPseudounicornuate uterus
  771263004http://snomed.info/sctPtosis and vocal cord paralysis syndrome
  233720006http://snomed.info/sctPulmonary lipid storage disease
  253627007http://snomed.info/sctPulmonary trunk absent with confluent pulmonary arteries
  253628002http://snomed.info/sctPulmonary trunk absent with non-confluent pulmonary arteries
  253588008http://snomed.info/sctPulmonary valve dysplasia
  253586007http://snomed.info/sctPulmonary valve ring hypoplasia
  447691009http://snomed.info/sctPulmonary venous confluence in direct proximity to left atrium
  62144003http://snomed.info/sctPunctate oculocutaneous albinoidism
  60743005http://snomed.info/sctPurine-nucleoside phosphorylase deficiency
  27837003http://snomed.info/sctPyle metaphyseal dysplasia
  87694001http://snomed.info/sctPyruvate carboxylase deficiency
  1003851001http://snomed.info/sctPyruvate dehydrogenase complex E1 beta subunit deficiency
  1003850000http://snomed.info/sctPyruvate dehydrogenase complex E1-alpha subunit deficiency
  253600008http://snomed.info/sctQuadricuspid pulmonary valve
  1052326006http://snomed.info/sctRachischisis partialis
  205129003http://snomed.info/sctRadial polydactyly Wassel 7
  723504000http://snomed.info/sctRamos Arroyo syndrome
  702413000http://snomed.info/sctRAPADILINO syndrome
  763891005http://snomed.info/sctRenal hepatic pancreatic dysplasia
  1003861008http://snomed.info/sctRenal tubular dysgenesis due to twin to twin transfusion
  95501007http://snomed.info/sctRetinal arteriovenous malformation
  247127002http://snomed.info/sctRetinal arteriovenous shunt
  723503006http://snomed.info/sctRetinal degeneration, nanophthalmos, glaucoma syndrome
  73119000http://snomed.info/sctRetinitis pigmentosa-deafness-ataxia syndrome
  1003862001http://snomed.info/sctRhizomelic chondrodysplasia punctata type 1
  770948004http://snomed.info/sctRhizomelic syndrome Urbach type
  783099001http://snomed.info/sctRIDDLE syndrome
  461090007http://snomed.info/sctRight arterial duct
  445330003http://snomed.info/sctRight atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)
  871613001http://snomed.info/sctRight hand pattern ventricular topology
  448103004http://snomed.info/sctRight ventricle inferior to left ventricle
  763405000http://snomed.info/sctRing chromosome 15 syndrome
  763406004http://snomed.info/sctRing chromosome 16 syndrome
  81678004http://snomed.info/sctRing chromosome 4 syndrome
  765489006http://snomed.info/sctRing chromosome 7 syndrome
  1222659003http://snomed.info/sctRNF13-related severe early-onset epileptic encephalopathy
  715986009http://snomed.info/sctRozin Hertz Goodman syndrome
  186570004http://snomed.info/sctRubella deafness
  64190005http://snomed.info/sctRubella myocarditis
  63450009http://snomed.info/sctRufous albinism
  330101000119101http://snomed.info/sctRupture of congenital aneurysm of cerebral artery
  203951008http://snomed.info/sctSacral spina bifida with hydrocephalus - closed
  203944004http://snomed.info/sctSacral spina bifida with hydrocephalus - open
  239043004http://snomed.info/sctSandman-Andra syndrome
  389277001http://snomed.info/sctScypho-patellar dysplasia
  1003917004http://snomed.info/sctSecondary congenital hyperplasia of lung
  765188009http://snomed.info/sctSevere combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency
  782751003http://snomed.info/sctSevere combined immunodeficiency due to IKK2 deficiency
  441190003http://snomed.info/sctSevere hereditary factor IX deficiency disease without inhibitor
  1187536004http://snomed.info/sctSevere infantile form of carnitine palmitoyltransferase II deficiency
  773419004http://snomed.info/sctSevere intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
  783005002http://snomed.info/sctSevere microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
  46804001http://snomed.info/sctSevere X-linked myotubular myopathy
  41371000119100http://snomed.info/sctShone complex
  774155009http://snomed.info/sctShort stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
  1237512003http://snomed.info/sctShort stature, developmental delay, congenital heart defect syndrome
  127046009http://snomed.info/sctSickle cell trait with coexistent alpha-thalassaemia
  416484003http://snomed.info/sctSickle cell-haemoglobin E disease with crisis
  127047000http://snomed.info/sctSickle cell-haemoglobin Lepore disease
  127048005http://snomed.info/sctSickle cell-Haemoglobin O Arab disease
  416826005http://snomed.info/sctSickle cell-thalassaemia disease with crisis
  264195003http://snomed.info/sctSimonart's band
  109426009http://snomed.info/sctSingle left ventricle
  471277007http://snomed.info/sctSingle right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery
  109425008http://snomed.info/sctSingle right ventricle
  447999009http://snomed.info/sctSingle ventricular outlet above left ventricle
  43929004http://snomed.info/sctSmith-Lemli-Opitz syndrome
  715987000http://snomed.info/sctSonoda syndrome
  763669001http://snomed.info/sctSpastic ataxia with congenital miosis
  763351003http://snomed.info/sctSpectrin-associated autosomal recessive cerebellar ataxia
  723611008http://snomed.info/sctSplit hand, split foot malformation with sensorineural hearing loss syndrome
  766820007http://snomed.info/sctSpondyloepimetaphyseal dysplasia with multiple dislocations
  766821006http://snomed.info/sctSpondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
  254078005http://snomed.info/sctSpondylometaphyseal dysplasia - Sutcliffe type
  782913006http://snomed.info/sctSpondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
  30028006http://snomed.info/sctSpondyloschisis
  1256046005http://snomed.info/sctSporadic camptodactyly
  253169007http://snomed.info/sctSporadic megalencephaly
  253691004http://snomed.info/sctStenosis of systemic to pulmonary artery collateral artery
  723584003http://snomed.info/sctStern Lubinsky Durrie syndrome
  723583009http://snomed.info/sctSteroid dehydrogenase deficiency and dental anomaly syndrome
  783097004http://snomed.info/sctStickler syndrome type 3
  54837006http://snomed.info/sctStraight back syndrome
  19886006http://snomed.info/sctSturge-Weber syndrome
  253574009http://snomed.info/sctSubaortic infundibulum
  204456001http://snomed.info/sctSubdiaphragmatic total anomalous pulmonary venous return
  1003440009http://snomed.info/sctSubmucosal laryngeal cleft
  253573003http://snomed.info/sctSubpulmonary infundibulum
  472802009http://snomed.info/sctSubpulmonary stenosis associated with functionally univentricular heart as complication of procedure
  238004006http://snomed.info/sctSuccinyl-CoA acetoacetate transferase deficiency
  95290002http://snomed.info/sctSupernumerary centrum of lumbar vertebra
  95291003http://snomed.info/sctSupernumerary centrum of sacral vertebra
  95292005http://snomed.info/sctSupernumerary centrum of thoracic vertebra
  95293000http://snomed.info/sctSupernumerary cervical vertebra
  49224008http://snomed.info/sctSupernumerary ear lobule
  95298009http://snomed.info/sctSupernumerary lumbar vertebra
  91846008http://snomed.info/sctSupernumerary metacarpal bone
  95300009http://snomed.info/sctSupernumerary sacral vertebra
  449434002http://snomed.info/sctSupracardiac location of anomalous pulmonary venous connection to left superior caval vein
  204457005http://snomed.info/sctSupradiaphragmatic total anomalous pulmonary venous return
  1010618000http://snomed.info/sctSyndactyly of fingers of bilateral hands
  871626002http://snomed.info/sctSyndactyly of toes with fusion of bones of toes of bilateral feet
  715723008http://snomed.info/sctSyndactyly type 1
  723581006http://snomed.info/sctSyndactyly, telecanthus, anogenital and renal malformation syndrome
  1231626009http://snomed.info/sctSyndromic nanophthalmos due to Kenny-Caffey syndrome
  1260133007http://snomed.info/sctSyndromic sensorineural deafness due to combined oxidative phosphorylation defect
  13262009http://snomed.info/sctSynechia vulvae
  253207002http://snomed.info/sctSynophrys
  471274000http://snomed.info/sctSystemic to pulmonary collateral artery contributing to dual lung supply
  460365008http://snomed.info/sctSystemic to pulmonary collateral artery from right renal artery
  719945007http://snomed.info/sctTaurodontia with absent teeth and sparse hair syndrome
  771265006http://snomed.info/sctTeebi Shaltout syndrome
  719946008http://snomed.info/sctTel Hashomer camptodactyly syndrome
  725140007http://snomed.info/sctTemple Baraitser syndrome
  719947004http://snomed.info/sctTemtamy syndrome
  53599007http://snomed.info/sctTesticular regression syndrome
  389157002http://snomed.info/sctThanatophoric dysplasia, type 1
  389158007http://snomed.info/sctThanatophoric dysplasia, type 2
  203942000http://snomed.info/sctThoracic spina bifida with hydrocephalus - open
  7722005http://snomed.info/sctThoracopagus epigastricus
  303138003http://snomed.info/sctThyroglossal duct anomaly
  699000000http://snomed.info/sctThyroglossal duct sinus
  715734006http://snomed.info/sctThyroid hemiagenesis
  764857004http://snomed.info/sctTibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
  699256006http://snomed.info/sctTimothy syndrome type 1
  238018004http://snomed.info/sctTotal hexosaminidase deficiency - infantile
  204745000http://snomed.info/sctTotal intestinal aganglionosis
  253732001http://snomed.info/sctTotally absent pericardium
  24750000http://snomed.info/sctTownes syndrome
  253297008http://snomed.info/sctTransposition of aorta
  205183000http://snomed.info/sctTransverse arrest carpal level
  302957001http://snomed.info/sctTransverse arrest metacarpal second to fifth rays
  302956005http://snomed.info/sctTransverse deficiency of hand
  719944006http://snomed.info/sctTrichomegaly with retina pigmentary degeneration and dwarfism syndrome
  253862000http://snomed.info/sctTrifid kidney
  205354008http://snomed.info/sctTriphalangeal great toe
  253442000http://snomed.info/sctTriple orifice of left ventricular component of common atrioventricular valve
  253614008http://snomed.info/sctTubular hypoplasia of aorta
  1003444000http://snomed.info/sctType 3 lissencephaly
  254052001http://snomed.info/sctType IV short rib polydactyly syndrome
  715905006http://snomed.info/sctUnilateral polymicrogyria
  717701008http://snomed.info/sctUterus bicornis bicollis with blind hemi-vagina
  717702001http://snomed.info/sctUterus bicornis bicollis with patent cervix and vagina
  123665003http://snomed.info/sctUterus bicornis unicollis with septate vagina
  6839008http://snomed.info/sctVACTEL syndrome
  448630005http://snomed.info/sctVascular ring with left aortic arch and right patent arterial duct
  447997006http://snomed.info/sctVascular ring with retrotracheal right pulmonary artery from ascending aorta
  460590006http://snomed.info/sctVascular ring with right aortic arch and left arterial ligament with anomalous retroesophageal left subclavian artery
  448078006http://snomed.info/sctVascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery
  448079003http://snomed.info/sctVascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery
  204312002http://snomed.info/sctVentricular septal defect between left ventricle and right atrium
  448827000http://snomed.info/sctVentricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim
  1010604007http://snomed.info/sctVentriculomegaly due to developmental anomaly
  764697003http://snomed.info/sctVerloove Vanhorick Brubakk syndrome
  254787009http://snomed.info/sctVerrucous haemangioma of skin
  232113004http://snomed.info/sctVertical retraction syndrome
  237895001http://snomed.info/sctVitamin D-dependent rickets type II without alopecia
  1187247007http://snomed.info/sctWAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
  234160008http://snomed.info/sctWeber's true diffuse phlebarteriectasis
  783703004http://snomed.info/sctWhite matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
  205657006http://snomed.info/sctWhole chromosome trisomy, mosaicism
  254066006http://snomed.info/sctWolcott-Rallison dysplasia
  771148008http://snomed.info/sctX-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
  726106004http://snomed.info/sctX-linked diffuse leiomyomatosis with Alport syndrome
  1003390009http://snomed.info/sctX-linked hypodontia
  719811001http://snomed.info/sctX-linked intellectual disability Cabezas type
  783702009http://snomed.info/sctX-linked intellectual disability due to GRIA3 mutations
  718914002http://snomed.info/sctX-linked intellectual disability Van Esch type
  1217228004http://snomed.info/sctX-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
  719825000http://snomed.info/sctX-linked intellectual disability, macrocephaly, macroorchidism syndrome
  719813003http://snomed.info/sctX-linked mandibulofacial dysostosis
  719815005http://snomed.info/sctX-linked myopathy with excessive autophagy
  73068003http://snomed.info/sctX-linked variant form of thyroxine-binding globulin
  764711007http://snomed.info/sctXq12-q13.3 duplication syndrome
  773418007http://snomed.info/sctXylosyltransferase 1 congenital disorder of glycosylation
  403806005http://snomed.info/sctZiprkowski-Margolis 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