SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal dominant hereditary disorder   11164009

SNOMED CT code


SNOMED code11164009
nameAutosomal dominant hereditary disorder
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal dominant hereditary disorder (disorder)
synonyms
  • Autosomal dominant hereditary disorder
  • AD - Autosomal dominant
parentsAutosomal hereditary disorder   1899006
children
  • 11p15.4 microduplication syndrome   770794008
  • 14q32 duplication syndrome   1234830005
  • 17q11.2 microduplication syndrome   719583002
  • 17q23.1-q23.2 duplication syndrome   890110004
  • 2p13.2 microdeletion syndrome   770756008
  • 3q27.3 microdeletion syndrome   770719004
  • 3q29 microdeletion syndrome   716456000
  • 8q13 microdeletion syndrome   724147004
  • 8q24.3 microdeletion syndrome   1229895008
  • Aase Smith type 1 syndrome   718576001
  • Aase syndrome   71988008
  • Ablepharon macrostomia syndrome   718575002
  • Absence of fingerprints with congenital milia syndrome   719595002
  • Achondroplasia   86268005
  • Acrocephalosyndactyly (Apert)   205258009
  • Acrocephalosyndactyly type V   70410008
  • Acrodysostosis   66758006
  • Acrokeratosis verruciformis of Hopf   400085009
  • Acromegaloid facial appearance syndrome   720456009
  • Acromicric dysplasia   254090007
  • Acroosteolysis, keloid-like lesions, premature aging syndrome   776417008
  • Acropectoral syndrome   720412009
  • Acropectorovertebral dysplasia   720457000
  • Acrorenoocular syndrome   720415006
  • Activated PI3K-delta syndrome   711480000
  • Acute intermittent porphyria   234422006
  • ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome   720464003
  • Adult onset autosomal dominant leukodystrophy   448054001
  • Adult-onset cervical dystonia DYT23 type   783242003
  • Adult-onset distal myopathy due to valosin containing protein mutation   770792007
  • AGel amyloidosis   783160006
  • AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004
  • AKT2-related familial partial lipodystrophy   1197746001
  • Albinism-deafness syndrome of Tietz   403805009
  • Alexander's disease   81854007
  • Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome   720980004
  • Alpha-B crystallin-related late-onset myopathy   783770002
  • Alport syndrome autosomal dominant   717766000
  • Amelo-onycho-hypohidrotic syndrome   715404000
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local   234961008
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - rough   234963006
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth   234962001
  • Amyotrophic lateral sclerosis type 10   1208412003
  • Amyotrophic lateral sclerosis type 3   1201950008
  • Amyotrophic lateral sclerosis type 4   784341001
  • Amyotrophic lateral sclerosis type 8   1204350002
  • Amyotrophic lateral sclerosis type 9   1204351003
  • Andersen Tawil syndrome   422348008
  • Aneurysm osteoarthritis syndrome   785808002
  • Angel-shaped phalangoepiphyseal dysplasia   720984008
  • Aniridia and absent patella syndrome   720467005
  • Aniridia and intellectual disability syndrome   720468000
  • Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001
  • Ankylosing vertebral hyperostosis with tylosis syndrome   720492008
  • Ankyrin-B syndrome   764457005
  • Antecubital pterygium syndrome   784351000
  • Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome   763615003
  • Aphalangy and syndactyly with microcephaly syndrome   720498007
  • Aplasia of lacrimal and salivary gland   715656004
  • Arteriohepatic dysplasia   31742004
  • Asymmetric crying face association   51409009
  • Ataxia pancytopenia syndrome   768556005
  • Atrial septal defect, atrioventricular conduction defect syndrome   725145002
  • Auriculo-condylar syndrome   702443003
  • Autism spectrum disorder due to AUTS2 deficiency   771512003
  • Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome   722288007
  • Autoimmune interstitial lung disease, arthritis syndrome   1222679006
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency   1197361002
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation   778004006
  • Autosomal dominant adult-onset proximal spinal muscular atrophy   784391002
  • Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein   1156789004
  • Autosomal dominant Alzheimer disease due to mutation of presenilin 1   1156800008
  • Autosomal dominant Alzheimer disease due to mutation of presenilin 2   1156798001
  • Autosomal dominant amyotrophic lateral sclerosis type 1   1197523001
  • Autosomal dominant analbuminemia   6426003  removed: 2017-01-31
  • Autosomal dominant aplasia and myelodysplasia   778006008
  • Autosomal dominant beta2-microglobulinic amyloidosis   722292000
  • Autosomal dominant brachyolmia   717264003
  • Autosomal dominant central core disease   1201861004
  • Autosomal dominant centronuclear myopathy   716696006
  • Autosomal dominant cerebellar ataxia type 2   1156796002
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome   722293005
  • Autosomal dominant Charcot-Marie-Tooth disease type 2   1156835005
  • Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation   1208415001
  • Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation   1202024009
  • Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation   1208418004
  • Autosomal dominant cystoid macular edema   312921000
  • Autosomal dominant deafness with onychodystrophy syndrome   1208614008
  • Autosomal dominant deficiency of plasminogen   95842004
  • Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type   716105001
  • Autosomal dominant distal hereditary motor neuropathy   1156837002
  • Autosomal dominant dopa responsive dystonia   715768000
  • Autosomal dominant dyskeratosis congenita   707273001
  • Autosomal dominant Emery-Dreifuss muscular dystrophy   1010712009
  • Autosomal dominant epidermolysis bullosa simplex   398170002
  • Autosomal dominant epidermolysis bullosa simplex   60518002  removed: 2003-07-31
  • Autosomal dominant epilepsy with auditory features   784377008
  • Autosomal dominant excess of transthyretin   66185005
  • Autosomal dominant familial isolated hypoparathyroidism   1217515007
  • Autosomal dominant familial wooly hair   403794008
  • Autosomal dominant focal dystonia DYT25 type   719516000
  • Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering   783136007
  • Autosomal dominant generalized dystrophic epidermolysis bullosa   1231284001
  • Autosomal dominant hereditary spastic paraplegia   737227004
  • Autosomal dominant hyperinsulinism due to Kir6.2 deficiency   717045004
  • Autosomal dominant hyperinsulinism due to SUR1 deficiency   717046003
  • Autosomal dominant hypocalcemia   711152006
  • Autosomal dominant hypohidrotic ectodermal dysplasia syndrome   7731005
  • Autosomal dominant hypophosphatemic bone disease   237890006
  • Autosomal dominant ichthyosis   402770002
  • Autosomal dominant idiopathic familial dystonia   230319002
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type A   765744006
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type B   765745007
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type C   765746008
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type D   765747004
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type E   722294004
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type F   770759001
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain   778003000
  • Autosomal dominant keratitis   715339004
  • Autosomal dominant late onset basal ganglia degeneration   230313001
  • Autosomal dominant late onset Parkinson disease   716662004
  • Autosomal dominant late-onset retinal degeneration   719431007
  • Autosomal dominant macrothrombocytopenia   720521008
  • Autosomal dominant mandibular prognathism   778069004
  • Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency   725150008
  • Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency   725151007
  • Autosomal dominant mitochondrial myopathy with exercise intolerance   1222644009
  • Autosomal dominant multiple pterygium syndrome   771269000
  • Autosomal dominant muscular dystrophy not predominantly limb girdle   240075007
  • Autosomal dominant muscular dystrophy with limb girdle distribution   240067001
  • Autosomal dominant myoglobinuria   725903003
  • Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome   1229999001
  • Autosomal dominant neovascular inflammatory vitreoretinopathy   770791000
  • Autosomal dominant oculocutaneous albinism   79417003  removed: 2019-07-31
  • Autosomal dominant omodysplasia   725165009
  • Autosomal dominant osteopetrosis type 1   1264041000
  • Autosomal dominant osteopetrosis type 2   725050005
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia   719518004
  • Autosomal dominant polycystic kidney disease   765330003
  • Autosomal dominant polycystic liver disease   890229002
  • Autosomal dominant popliteal pterygium syndrome   718222000
  • Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome   1187115008
  • Autosomal dominant primary hypomagnesemia with hypocalciuria   725393000
  • Autosomal dominant primary microcephaly   778070003
  • Autosomal dominant progressive external ophthalmoplegia   827115000
  • Autosomal dominant progressive nephropathy with hypertension   703310005
  • Autosomal dominant pseudoxanthoma elasticum   403811007
  • Autosomal dominant pterygium of conjunctiva   716197003
  • Autosomal dominant retinitis pigmentosa   232052009
  • Autosomal dominant rhegmatogenous retinal detachment   773727009
  • Autosomal dominant Robinow syndrome   890233009
  • Autosomal dominant secondary polycythemia   783202008
  • Autosomal dominant sensory neuropathy   230553002
  • Autosomal dominant severe congenital neutropenia   770947009
  • Autosomal dominant sideroblastic anemia   1148914007
  • Autosomal dominant slowed nerve conduction velocity   764854006
  • Autosomal dominant spastic ataxia type 1   784380009
  • Autosomal dominant spondylocostal dysostosis   716232002
  • Autosomal dominant striatal neurodegeneration   725392005
  • Autosomal dominant thrombocytopenia with platelet secretion defect   1187252002
  • Autosomal dominant tubulointerstitial kidney disease   726018006
  • Autosomal dominant variant form of albumin   21367009
  • Autosomal dominant vitreoretinochoroidopathy   711162004
  • Axenfeld anomaly   204152008
  • Axial osteosclerosis   254125009
  • Ballard syndrome   722298001
  • Banki syndrome   733093004
  • BAP1 tumor predisposition syndrome   765057007
  • Behavioral variant of frontotemporal dementia   716994006
  • Benign adult familial myoclonic epilepsy   717225001
  • Benign autosomal dominant osteopetrosis   75654009  removed: 2023-02-28
  • Benign concentric annular macular dystrophy   719520001
  • Benign familial infantile epilepsy   1237571004
  • Benign familial mesial temporal lobe epilepsy   770405003
  • Benign familial neonatal-infantile seizures   1231282002
  • Benign neonatal familial convulsions   230410004
  • BENTA disease   1179300002
  • Best vitelliform macular dystrophy   763387005
  • Bethlem myopathy   718572004
  • Birt Hogg Dubé syndrome   1263460007
  • Bleeding diathesis due to thromboxane synthesis deficiency   783194008
  • Blepharocheilodontic syndrome   717911008
  • Blepharoptosis, myopia, ectopia lentis syndrome   717915004
  • Blindness, scoliosis, arachnodactyly syndrome   717920004
  • Book syndrome   722296002
  • Brachydactyly and arterial hypertension syndrome   720568003
  • Brachydactyly and distal symphalangism syndrome   732956000
  • Brachydactyly and preaxial hallux varus syndrome   732957009
  • Brachydactyly type A1   715720006
  • Brachydactyly type A2   720569006
  • Brachydactyly type A3   890438002
  • Brachydactyly type A4   715721005
  • Brachydactyly type A5   720570007
  • Brachydactyly type A6   715722003
  • Brachydactyly type B2   770406002
  • Brachydactyly type D   890439005
  • Brachydactyly with syndactyly Zhao type   720572004
  • Brachymorphism with onychodysplasia and dysphalangism syndrome   720573009
  • Brachytelephalangy, facial dysmorphism, Kallmann syndrome   720574003
  • Brain lung thyroid syndrome   719098007
  • Branchiogenic deafness syndrome   717944002
  • Branchiooculofacial syndrome   449821007
  • Branchiootic syndrome   764810000
  • Brooke-Spiegler syndrome   703531009
  • Brugada syndrome   418818005
  • Butterfly-shaped pigmentary macular dystrophy   725590001
  • Cap myopathy   703532002
  • Capillary malformation-arteriovenous malformation syndrome   703533007
  • Cardiac anomaly and heterotaxy syndrome   720605009
  • Cardiospondylocarpofacial syndrome   720612000
  • Carney complex   733491005
  • Carney Stratakis syndrome   722377004
  • Carpotarsal osteochondromatosis   389272007
  • Cataract glaucoma syndrome   718851007
  • Cathepsin A-related arteriopathy, strokes, leukoencephalopathy   1197429000
  • Caveolin 3 related distal myopathy   711265009
  • Centrofacial lentiginosis syndrome   18822004
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003
  • Cerebrooculonasal syndrome   720855003
  • Char syndrome   703534001
  • CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome   1179408008
  • Childhood-onset autosomal dominant optic atrophy   838307002
  • Childhood-onset benign chorea with striatal involvement   1172602000
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder   1167373005
  • Childhood-onset nemaline myopathy   1197154006
  • CHMP2B-related frontotemporal dementia   702393003
  • Choanal atresia with radial ray hypoplasia   232373003
  • Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome   1281843005
  • Choroid plexus carcinoma   1156471001
  • Chronic infantile diarrhea due to guanylate cyclase 2C overactivity   785727000
  • Chronic respiratory distress with surfactant metabolism deficiency   783182004
  • Cleft palate with short stature and vertebral anomaly syndrome   719466009
  • Cleft palate, large ears, small head syndrome   763130006
  • Cleidocranial dysostosis   65976001
  • Cleidorhizomelic syndrome   719471002
  • Cochleosaccular degeneration and cataract syndrome   715528001
  • COL4A1-related familial vascular leukoencephalopathy   778060000
  • Cole disease   711154007
  • Coloboma of macula with brachydactyly type B syndrome   717785002
  • Colobomatous macrophthalmia with microcornea syndrome   1179296003
  • Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008
  • Congenital blue dot cataract   204138006
  • Congenital contractural arachnodactyly   205821003
  • Congenital dyserythropoietic anemia type IV   719453009
  • Congenital dyserythropoietic anemia, type III   26409005
  • Congenital fiber-type disproportion myopathy due to MYH7 mutation   1209168005
  • Congenital hereditary endothelial dystrophy type 1   416633008
  • Congenital Horner syndrome   770626007
  • Congenital muscular dystrophy due to LMNA mutation   771272007
  • Congenital myopathy with internal nuclei and atypical cores   764945007
  • Congenital myotonia, autosomal dominant form   57938005
  • Congenital reticular ichthyosiform erythroderma   703504006
  • Congenital short costocoracoid ligament   725101002
  • Congenital stromal corneal dystrophy   702359002
  • Cooks syndrome   720747002
  • Coralliform cataract   890350009
  • Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome   773577009
  • Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation   784344009
  • Coxopodopatellar syndrome   720752007
  • Cranio-cervical dystonia with laryngeal and upper limb involvement   783179009
  • Craniofacial conodysplasia syndrome   720754008
  • Craniofacial deafness hand syndrome   702362004
  • Craniosynostosis Boston type   720817008
  • Craniosynostosis Philadelphia type   720818003
  • Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome   720813007
  • Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009
  • Crouzon syndrome   28861008
  • Cryptomicrotia brachydactyly syndrome   725096002
  • Curly hair, acral keratoderma, caries syndrome   763686007
  • Currarino triad   413936007
  • Cutis gyrata syndrome of Beare and Stevenson   703528008
  • Cutis laxa, autosomal dominant   111388003
  • Cyprus facial neuromusculoskeletal syndrome   732261005
  • Czech dysplasia metatarsal type   720826006
  • Dacryocystitis and osteopoikilosis syndrome   721082002
  • DDX41-related hematologic malignancy predisposition syndrome   1172625004
  • Deafness craniofacial syndrome   716245003
  • Deficiency in anterior pituitary function, variable immunodeficiency syndrome   773664005
  • Dehydrated hereditary stomatocytosis   715526002
  • Dentatorubropallidoluysian degeneration   68116008
  • Dentin dysplasia   109492001
  • Dentinogenesis imperfecta   196286005
  • Dermo-odonto dysplasia   721091003
  • Desmin-related myofibrillar myopathy   770627003
  • Developmental delay, facial dysmorphism syndrome due to MED13L deficiency   787093004
  • Developmental malformation, deafness, dystonia syndrome   721092005
  • Diabetes mellitus autosomal dominant type II   237604008
  • DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004
  • Diaphyseal dysplasia   34643004
  • Diaphyseal medullary stenosis with bone malignancy   389216001
  • DICER1 syndrome   702411003
  • Diffuse palmoplantar keratoderma and acrocyanosis syndrome   721096008
  • Diffuse palmoplantar keratoderma with painful fissures   778062008
  • Digitotalar dysmorphism   715314008
  • Dislocation of hip and facial dysmorphism syndrome   763755009
  • Distal arthrogryposis type 10   1208482007
  • Distal arthrogryposis type 3   897570002
  • Distal myopathy 2   702383005
  • Distal myopathy Welander type   726107008
  • Distal myopathy with posterior leg and anterior hand involvement   733489002
  • Distichiasis-lymphedema syndrome   8634009
  • DNA2-related mitochondrial DNA deletion syndrome   783057002
  • Dominant autosomal hereditary disorder, complete penetrance   86426007
  • Dominant autosomal hereditary disorder, incomplete penetrance   87006007
  • Dominant beta-thalassemia   716682000
  • Dominant drusen   193411004
  • Dominant hereditary optic atrophy   2065009
  • Doughnut lesion of calvaria and bone fragility syndrome   720598005
  • Drash syndrome   236385009
  • Duane retraction syndrome with congenital deafness   1230014007
  • Dyschondrosteosis and nephritis syndrome   722433005
  • Dysplasia epiphysealis hemimelica   205480005
  • Dystonia 28   1281844004
  • Dystonia aphonia syndrome   782718007
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001
  • East Texas bleeding disorder   773422002
  • Ectodermal dysplasia trichoodontoonychial type   734018003
  • Ectodermal dysplasia with natal teeth Turnpenny type   715576000
  • EDICT syndrome   722439009
  • Edinburgh malformation syndrome   771178004
  • Ehlers-Danlos and osteogenesis imperfecta syndrome   733457006
  • Ehlers-Danlos syndrome classic type   715318006
  • Ehlers-Danlos syndrome, procollagen proteinase deficient   55711009
  • Ehlers-Danlos syndrome, type 8   50869007
  • Emberger syndrome   700057001
  • Emery Nelson syndrome   773768000
  • Enlarged parietal foramina   718099006
  • Epibulbar lipodermoid, preauricular appendage, polythelia syndrome   1208480004
  • Epidermolytic palmoplantar keratoderma of Vorner   239071005
  • Episodic ataxia   421455009
  • Epithelial recurrent erosion dystrophy   715908008
  • Erythema palmare hereditarium   763767006
  • Exercise-induced hyperinsulinism   715830008
  • Extensor tendons of finger anomalies   782937006
  • External auditory canal atresia, vertical talus, hypertelorism syndrome   783774006
  • Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007
  • Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007
  • Familial acute necrotizing encephalopathy   723359002
  • Familial advanced sleep phase syndrome   715829003
  • Familial Alzheimer-like prion disease   721219005
  • Familial amyloid nephropathy with urticaria AND deafness   15123008
  • Familial amyloid polyneuropathy   42295001
  • Familial articular hypermobility syndrome   71322004
  • Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease   1197418004
  • Familial avascular necrosis of femoral head   715657008
  • Familial benign pemphigus   79468000
  • Familial bicuspid aortic valve   770435005
  • Familial calcium pyrophosphate dihydrate crystal deposition disease   1162808000
  • Familial caudal dysgenesis   722493007
  • Familial cavitary optic disc anomaly   1197365006
  • Familial chilblain lupus erythematosus   1220590003
  • Familial chondromalacia of patella   726628003
  • Familial cold urticaria   238687000
  • Familial congenital palsy of trochlear nerve   782679002
  • Familial cortical myoclonus   763770005
  • Familial Creutzfeldt-Jakob   715807002
  • Familial cutaneous collagenoma   239139000
  • Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome   782823001
  • Familial developmental dysphasia   721220004
  • Familial digital arthropathy and brachydactyly syndrome   717192003
  • Familial dilated cardiomyopathy with conduction defect due to LMNA mutation   766883006
  • Familial dyskeratotic comedones   254219004
  • Familial dyskinesia and facial myokymia   763352005
  • Familial encephalopathy with neuroserpin inclusion bodies   702421006
  • Familial episodic pain syndrome   782756008
  • Familial focal epilepsy with variable foci   764522009
  • Familial generalized lentiginosis   765195000
  • Familial gigantiform cementoma of jaw   1263445009
  • Familial hemiplegic migraine   95656000
  • Familial hyperaldosteronism type 1   703232003
  • Familial hyperprolactinemia   763715007
  • Familial hypocalciuric hypercalcemia   237885008
  • Familial hypodontia   109447008
  • Familial hypokalemic periodic paralysis   82732003
  • Familial isolated arrhythmogenic right ventricular dysplasia   715865008
  • Familial isolated congenital asplenia   726708009
  • Familial isolated hyperparathyroidism   786037006
  • Familial isolated pituitary adenoma   702375004
  • Familial male-limited precocious puberty   725295005
  • Familial multinodular goiter syndrome   1279836009
  • Familial multiple benign meningioma   765202001
  • Familial multiple discoid fibroma   1222705009
  • Familial non-autoimmune autosomal dominant hyperthyroidism   716743006
  • Familial omphalocele syndrome with facial dysmorphism   770900000
  • Familial osteochondritis dissecans   715899006
  • Familial partial lipodystrophy Dunnigan type   715439000
  • Familial partial lipodystrophy Kobberling type   725035001
  • Familial patent arterial duct   1179298002
  • Familial platelet syndrome with predisposition to acute myelogenous leukemia   725034002
  • Familial porencephaly   1162864000
  • Familial porphyria cutanea tarda   59229005
  • Familial progressive hyper and hypopigmentation   763368004
  • Familial progressive hyperpigmentation   715630006
  • Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome   1172636006
  • Familial pseudohyperkalemia   717254007
  • Familial scaphocephaly syndrome McGillivray type   725030006
  • Familial Scheuermann disease   725411000
  • Familial spontaneous pneumothorax   715219001
  • Familial thoracic aortic aneurysm and aortic dissection   764965000
  • Familial vesicoureteral reflux   763716008
  • Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease   1230303001
  • Feingold syndrome   702431004
  • FGFR2-related bent bone dysplasia   778008009
  • Fibronectin glomerulopathy   818952002
  • Fibular aplasia and ectrodactyly syndrome   720952001
  • Finnish upper limb onset distal myopathy   763718009
  • Flat face, microstomia, ear anomaly syndrome   773750003
  • Floating-Harbor syndrome   312214005
  • Focal facial dermal dysplasia type I   789157007
  • Focal facial dermal dysplasia type II   789159005
  • Focal palmoplantar and gingival keratoderma   764963007
  • Focal palmoplantar keratoderma with joint keratoses   778051008
  • Foveal hypoplasia with presenile cataract syndrome   778042000
  • FOXG1 syndrome   702450004
  • Frontotemporal dementia with parkinsonism-17   702429008
  • FTH1-related iron overload   1230310007
  • Gabriele-de Vries syndrome   1186730002
  • Gastric adenocarcinoma and proximal polyposis of stomach   771474005
  • Gastrocutaneous syndrome   782946000
  • GEMSS syndrome   722450007
  • Generalized basaloid follicular hamartoma syndrome   766928004
  • Generalized epilepsy and paroxysmal dyskinesia syndrome   715629001
  • Genitopatellar syndrome   702367005
  • Genochondromatosis type 1   1003427004
  • Genochondromatosis type 2   725904009
  • Gingival fibromatosis and hypertrichosis syndrome   716008002
  • Gingival fibromatosis with progressive deafness syndrome   722449007
  • Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome   1172630000
  • Glomuvenous malformation   715644000
  • Glucose transporter protein type 1 deficiency syndrome   445252005
  • GMS syndrome   716024001
  • Gnathodiaphyseal dysplasia   715568002
  • Gorlin syndrome   69408002
  • Grant syndrome   723827003
  • Granular corneal dystrophy   45283008
  • Granulomatous inflammatory arthritis, dermatitis and uveitis, familial   699861000
  • Grayson Wilbrandt corneal dystrophy   717286002
  • GRN-related frontotemporal dementia   702426001
  • Guttmacher syndrome   722452004
  • Hand-foot-genital syndrome   702425002
  • Haspeslagh Fryns Muelenaere syndrome   716090004
  • Hawkinsinuria   414380008
  • Heart-hand syndrome Slovenian type   721014007
  • Hecht syndrome   8757006
  • Helicoid peripapillary chorioretinal degeneration   724384008
  • Hemifacial hyperplasia strabismus syndrome   733046006
  • Hemochromatosis type 4   719975002
  • Hemoglobinopathy Toms River   782880001
  • Hemolytic anemia due to erythrocyte adenosine deaminase overproduction   5315003
  • Hereditary angioneurotic edema with normal C1 esterase inhibitor activity   427167008
  • Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome   702428000
  • Hereditary antithrombin III deficiency   439699000
  • Hereditary benign acanthosis nigricans   205583005
  • Hereditary benign intraepithelial dyskeratosis   400014002
  • Hereditary breast and ovarian cancer syndrome   718220008
  • Hereditary C1 esterase inhibitor deficiency - deficient factor   234619000
  • Hereditary C1 esterase inhibitor deficiency - dysfunctional factor   234620006
  • Hereditary camptodactyly   238855000
  • Hereditary cavernous hemangioma of brain   717003001
  • Hereditary cerebral hemorrhage with amyloidosis   724357007
  • Hereditary diffuse carcinoma of stomach   716859000
  • Hereditary diffuse leukoencephalopathy with spheroids   702427005
  • Hereditary distal onycholysis   1254945005
  • Hereditary elliptocytosis due to abnormal protein 4.1   75443009
  • Hereditary elliptocytosis due to alpha spectrin defect   8857001
  • Hereditary elliptocytosis due to beta spectrin defect in self-association   73073009
  • Hereditary elliptocytosis due to deficiency of protein 4.1   5994005
  • Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome   771306007
  • Hereditary geniospasm   718103001
  • Hereditary hollow viscus myopathy   63684002
  • Hereditary hypercarotenemia and vitamin A deficiency   726079008
  • Hereditary hypotrichosis simplex of scalp   717256009
  • Hereditary inclusion body myopathy type 4   770786001
  • Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome   724349009
  • Hereditary keratoacanthoma   716774008
  • Hereditary leiomyomatosis and renal cell carcinoma   1162799008
  • Hereditary lymphedema and yellow nails   400211001
  • Hereditary lymphedema type I   399889006
  • Hereditary lymphedema type II   400040008
  • Hereditary malignant neuroendocrine neoplasm of small intestine   1222643003
  • Hereditary mixed polyposis syndrome   787410005
  • Hereditary motor and sensory neuropathy Okinawa type   715665006
  • Hereditary motor and sensory neuropathy type 5   771143004
  • Hereditary myopathy with early respiratory failure   702373006
  • Hereditary nephrogenic diabetes insipidus   61165007
  • Hereditary neurocutaneous angiomata   403775003
  • Hereditary oculoleptomeningeal amyloid angiopathy   43532007
  • Hereditary papillary renal cell carcinoma   715561008
  • Hereditary pediatric Behçet-like disease   1187119002
  • Hereditary persistence of alpha-fetoprotein   716697002
  • Hereditary pheochromocytoma and paraganglioma   716857003
  • Hereditary progressive mucinous histiocytosis   771300001
  • Hereditary sensorimotor neuropathy with hyperelastic skin   782881002
  • Hereditary sensory and autonomic neuropathy type 1B   717825008
  • Hereditary sensory and autonomic neuropathy type 7   783550006
  • Hereditary sensory autonomic neuropathy type IA   860813007
  • Hereditary sensory autonomic neuropathy type IC   860814001
  • Hereditary sensory autonomic neuropathy type ID   860811009
  • Hereditary sensory autonomic neuropathy type IE   860812002
  • Hereditary sensory-motor neuropathy, type I   398040009
  • Hereditary stomatocytosis   14087004
  • Hereditary systemic amyloidosis   107311000119104
  • Hereditary thermosensitive neuropathy   715645004
  • Hereditary thrombocytopenia with early-onset myelofibrosis   1172699002
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency   783250007
  • Hereditary von Willebrand disease type 1   128106003
  • Hereditary von Willebrand disease type 2B   359717002
  • Hereditary von Willebrand disease type 2M   359725000
  • Heritable pulmonary arterial hypertension due to BMPR2 mutation   697899000
  • Hidrotic ectodermal dysplasia Christianson Fourie type   771239007
  • Hidrotic ectodermal dysplasia syndrome   54209007
  • High bone mass osteogenesis imperfecta   782781006
  • Hip dysplasia Beukes type   721148005
  • HNPCC - hereditary nonpolyposis colon cancer   315058005
  • HNSHA due to triosephosphate isomerase deficiency   44641000
  • Holt-Oram syndrome   19092004
  • Hot water reflex epilepsy   763534009
  • Howel-Evans' syndrome   111030006
  • HTRA1-related autosomal dominant cerebral small vessel disease   1186724002
  • Hunter McAlpine craniosynostosis syndrome   721227001
  • Huntington disease-like 1   784371009
  • Huntington disease-like 2   721228006
  • Huntington disease-like syndrome due to C9ORF72 expansions   782743001
  • Huntington's chorea   58756001
  • Hyaline dystrophy of Bruch's membrane   36524008
  • Hyperferritinemia cataract syndrome   702398007
  • Hyperinsulinism and hyperammonemia syndrome   718106009
  • Hyperinsulinism due to deficiency of glucokinase   717182006
  • Hyperinsulinism due to HNF1A deficiency   721234004
  • Hyperinsulinism due to HNF4A deficiency   717048002
  • Hyperinsulinism due to insulin receptor deficiency   721235003
  • Hyperinsulinism due to uncoupling protein 2 deficiency   721834007
  • Hyperostosis cranialis interna   1217210001
  • Hyperparathyroidism-jaw tumor syndrome   702378002
  • Hyperproinsulinemia   237613005
  • Hypertelorism Teebi type   724284005
  • Hypertelorism, preauricular sinus, punctual pits, deafness syndrome   773667003
  • Hypertension due to gain-of-function mutation in mineralocorticoid receptor   766937004
  • Hypertrichosis cubiti   771181009
  • Hyperuricemia, anemia, renal failure syndrome   721840000
  • Hyperzincemia and hypercalprotectinemia   771339005
  • Hypodontia and nail dysgenesis   239021007
  • Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome   721842008
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy   773666007
  • Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004
  • Hypoparathyroidism, deafness, renal disease syndrome   724282009
  • Hypoplastic tibia and postaxial polydactyly syndrome   716741008
  • Hypotrichosis and deafness syndrome   783555001
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia   703544004
  • Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005
  • Infundibulopelvic stenosis multicystic kidney syndrome   725905005
  • Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome   1217382002
  • Intellectual disability, cataract, calcified pinna, myopathy syndrome   726709001
  • Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome   773581009
  • Intellectual disability, expressive aphasia, facial dysmorphism syndrome   1197593006
  • Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency   782736007
  • Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome   1254652005
  • Interstitial lung disease due to surfactant protein C deficiency   1222677008
  • Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome   702384004
  • Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome   1197592001
  • Isolated autosomal dominant hypomagnesemia Glaudemans type   722008003
  • Isolated congenital adermatoglyphia   763748007
  • Isolated cryptophthalmos   718691008
  • Isolated focal non-epidermolytic palmoplantar keratoderma   1260463008
  • Isolated osteopoikilosis   1231182008
  • ITM2B-related amyloidosis   1187126002
  • Jackson-Weiss syndrome   709105005
  • Johnson neuroectodermal syndrome   721584005
  • Juvenile cataract, microcornea, renal glucosuria syndrome   722457005
  • Juvenile polyposis syndrome   9273005
  • Karsch Neugebauer syndrome   722032005
  • Kawashima Tsuji syndrome   716112005
  • KBG syndrome   711156009
  • KCNQ2-related epileptic encephalopathy   778001003
  • Keppen Lubinsky syndrome   1220589007
  • Keratosis follicularis   48611009
  • King Denborough syndrome   764957003
  • Kleefstra syndrome   724207001
  • KLHL9-related early-onset distal myopathy   763776004
  • Kniest dysplasia   53974002
  • Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009
  • Koolen De Vries syndrome   717338006
  • Kozlowski spondylometaphyseal dysplasia   111304003
  • KRT1-related diffuse nonepidermolytic keratoderma   1222645005
  • Laing early-onset distal myopathy   764859001
  • LAMA5-related multisystemic syndrome   1217370006
  • Larsen syndrome   63387002
  • Late-onset distal myopathy Markesbery Griggs type   770558006
  • Lattice corneal dystrophy   361199007
  • Legius syndrome   703541007
  • Leri-Weill dyschondrosteosis   17818006
  • Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome   773700005
  • Li-Fraumeni syndrome   428850001
  • Liebenberg syndrome   764437006
  • Limb mammary syndrome   721972001
  • Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003
  • LMNA-related cardiocutaneous progeria syndrome   773426004
  • Loeys-Dietz syndrome   446263001
  • Long QT syndrome type 11   1208881008
  • Long QT syndrome type 6   1208909006
  • Long QT syndrome type 9   1208911002
  • Long thumb brachydactyly syndrome   733454004
  • Lower motor neuron syndrome with late-adult onset   783618006
  • Lowry MacLean syndrome   721974000
  • Lymphedema and cerebral arteriovenous anomaly syndrome   721979005
  • Lynch syndrome   716318002
  • Macrocephaly, intellectual disability, autism syndrome   783089006
  • Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome   1187304005
  • Macrostomia, preauricular tag, external ophthalmoplegia syndrome   723366001
  • Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome   1172685001
  • Malignant hyperthermia caused by anesthetic   213026003
  • Mammary digital nail syndrome   718679004
  • Mandibular hypoplasia, deafness, progeroid syndrome   773406003
  • Marfan's syndrome   19346006
  • Marie Unna syndrome   254234005
  • Marshall-Smith syndrome   73284007
  • Martinique crinkled retinal pigment epitheliopathy   1187639002
  • Maternal riboflavin deficiency   773549000
  • Maturity onset diabetes mellitus in young   28453007  removed: 2013-07-31
  • Maturity onset diabetes of the young, type 1   609562003
  • Maturity-onset diabetes of the young, type 10   609577006
  • Maturity-onset diabetes of the young, type 11   609578001
  • Maturity-onset diabetes of the young, type 3   609570008
  • Maturity-onset diabetes of the young, type 5   609572000
  • Maturity-onset diabetes of the young, type 8   609575003
  • May Hegglin syndrome   68559009  removed: 2019-01-31
  • Median nodule of upper lip   722034006
  • Meesman's corneal dystrophy   1674008
  • Melanoma and neural system tumor syndrome   717968005
  • Melnick-Fraser syndrome   290006
  • Melorheostosis with osteopoikilosis   1197053003
  • Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency   723385003
  • Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency   723386002
  • Mesomelic dysplasia Kantaputra type   719397009
  • Metabolic myopathy due to lactate transporter defect   766715000
  • Metachondromatosis   205481009
  • Metaphyseal dysplasia Braun Tinschert type   717221005
  • Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007
  • Microcephalus, lymphedema, chorioretinopathy syndrome   733604003
  • Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome   1167375003
  • Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002
  • Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005
  • Microcornea with glaucoma and absent frontal sinus syndrome   716166002
  • Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome   771342004
  • Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome   1187114007
  • Microphthalmia with brain and digit anomaly   721878003
  • Microspherophakia with metaphyseal dysplasia syndrome   724140002
  • Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome   724139004
  • Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis   715670004
  • MIRAGE syndrome   1234831009
  • Mirror hands and feet co-occurrent with nasal defect   715440003
  • Moebius syndrome   766987006
  • Morava Mehes syndrome   719843001
  • Mowat-Wilson syndrome   703535000
  • Muenke syndrome   787407003
  • Mullerian aplasia   253828000
  • Mullerian duct and limb anomalies syndrome   716111003
  • Multicentric carpotarsal osteolysis syndrome   766992008
  • Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus   723408004
  • Multiple congenital exostosis   254044004
  • Multiple endocrine neoplasia, type 2   61808009
  • Multiple endocrine neoplasia, type 2b   61530001
  • Multiple epiphyseal dysplasia Beighton type   719689005
  • Multiple epiphyseal dysplasia due to collagen 9 anomaly   766717008
  • Multiple epiphyseal dysplasia type 1   715673002
  • Multiple epiphyseal dysplasia type 5   715674008
  • Multiple lentigines syndrome   111306001
  • Multiple osteochondroma   716742001
  • Multisystemic smooth muscle dysfunction syndrome   782724001
  • Muscle filaminopathy   764992006
  • Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus   237611007
  • Muscular dystrophy Selcen type   723407009
  • Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome   773584001
  • Mutilating keratoderma   24559001
  • Myhre syndrome   699316006
  • Myoclonus, cerebellar ataxia, deafness syndrome   733065003
  • Myotonic dystrophy   1177122009
  • Nail-patella syndrome   22199006
  • Nasopalpebral lipoma coloboma syndrome   723411003
  • Neuhauser Eichner Opitz syndrome   1208339007
  • Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008
  • Neuroferritinopathy   699299001
  • Neurofibromatosis type 1   92824003
  • Neurofibromatosis type 6   1208340009
  • Neurogenic scapuloperoneal syndrome Kaeser type   1208615009
  • Nicolaides-Baraitser syndrome   401046009
  • Nievergelt's syndrome   33979003
  • NLRC4-related familial cold autoinflammatory syndrome   1264006004
  • NLRP12-associated hereditary periodic fever syndrome   783146009
  • Non-hypoproteinemic hypertrophic gastropathy   773397000
  • Non-progressive cerebellar ataxia with intellectual disability   723441001
  • Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase   725057008
  • Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001
  • Noonan syndrome-like disorder with loose anagen hair   723444009
  • Noonan's syndrome   205824006
  • NUDT15 deficiency   781386002
  • Occult macular dystrophy   770667002
  • Oculodental syndrome   699754008
  • Oculootoradial syndrome   722019000
  • Odonto-tricho-ungual-digito-palmar syndrome   722063009
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant   699298009
  • Oligodontia and cancer predisposition syndrome   773345007
  • Optic nerve edema, splenomegaly syndrome   771471002
  • Osler hemorrhagic telangiectasia syndrome   21877004
  • Osteocraniostenosis   722109008
  • Osteofibrous dysplasia   1234828008
  • Osteogenesis imperfecta type I   385482004
  • Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome   733064004
  • Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000
  • Otodental syndrome   1237343009
  • Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000
  • Overhydrated hereditary stomatocytosis   722125003
  • Palmoplantar hyperkeratosis sclerodactyly syndrome   239076000
  • Palmoplantar keratoderma with clinodactyly syndrome   724224007
  • Palmoplantar keratoderma with deafness syndrome   722203001
  • Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome   1222646006
  • Palmoplantar keratoderma, spastic paralysis syndrome   785725008
  • Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome   722206009
  • Pancytopenia due to IKZF1 mutations   783142006
  • Parastremmatic dwarfism   722210007
  • Parietal foramina with clavicular hypoplasia   771338002
  • Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity   715564000
  • Paroxysmal extreme pain disorder   699190008
  • Patterson Stevenson Fontaine syndrome   724069009
  • Pelvis shoulder dysplasia   719298001
  • Perilipin 1 related familial partial lipodystrophy   783616005
  • Periodic fever, infantile enterocolitis, autoinflammatory syndrome   1197594000
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease   765325002
  • Peripheral dysostosis   773985008
  • Peripheral neuropathy with sensorineural hearing impairment syndrome   723497003
  • Peripheral resistance to thyroid hormone   718193005
  • Peutz-Jeghers syndrome   54411001
  • Pfeiffer's disease   314131007  removed: 2002-07-31
  • PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006
  • Phosphoserine aminotransferase deficiency   718603002
  • Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction   237612000
  • Piebald trait with neurologic defects syndrome   773984007
  • Piebaldism   718122005
  • Pierpont syndrome   1220594007
  • Pitt-Hopkins syndrome   702344008
  • PMP22-RAI1 contiguous gene duplication syndrome   1172899000
  • Poikiloderma, alopecia, retrognathism, cleft palate syndrome   771186004
  • Polycystic kidney disease, adult type   28728008  removed: 2018-07-31
  • Polydactyly myopia syndrome   733087007
  • Polydactyly of biphalangeal thumb   725409009
  • Polydactyly of index finger   723446006
  • Polydactyly of triphalangeal thumb   715710001
  • Polymicrogyria due to TUBB2B mutation   1208935007
  • Polymorphous corneal dystrophy   29504002
  • Polyvalvular heart disease syndrome   723448007
  • Pontine autosomal dominant microangiopathy with leukoencephalopathy   1173997008
  • Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome   763866005
  • Postaxial tetramelic oligodactyly   770946000
  • Posterior amorphous corneal dystrophy   719296002
  • Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004
  • Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome   1269233006
  • Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency   1217211002
  • Potassium aggravated myotonia   702355008
  • PPARG-related familial partial lipodystrophy   1197745002
  • Primary failure of tooth eruption   1231153007
  • Primary hyperaldosteronism, seizures, neurological abnormalities syndrome   789063000
  • Primary pigmented nodular adrenocortical disease   719274008
  • Prion protein systemic amyloidosis   733422008
  • PRKAR1B-related neurodegenerative dementia with intermediate filaments   774069007
  • Progressive bifocal chorioretinal atrophy   719266007
  • Progressive myoclonic epilepsy type 5   783055005
  • Progressive myoclonic epilepsy type 7   1208939001
  • Progressive myositis ossificans   82725007
  • Progressive osseous heteroplasia   719271000
  • Progressive palmoplantar keratoderma of Greither   239070006
  • Progressive scapulohumeroperoneal distal myopathy   1217226000
  • Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome   719272007
  • Prothrombin G20210A mutation   440989002
  • Pseudo von Willebrand disease   128115005
  • Pseudohypoaldosteronism, type 1, dominant form   85880000
  • Pseudohypoparathyroidism type 1C   717792007
  • Pseudohypoparathyroidism type I A   58833000
  • Pseudoprimary hyperaldosteronism   707747007
  • PTEN hamartoma tumor syndrome   722859001
  • Ptosis and vocal cord paralysis syndrome   771263004
  • Ptosis, strabismus, ectopic pupil syndrome   726619004
  • PUM1-associated developmental disability, ataxia, seizure syndrome   1260097007
  • Punctate palmoplantar keratoderma type 1   717184007
  • Punctate palmoplantar keratoderma type 2   765096001
  • Pyogenic arthritis, pyoderma gangrenosum, acne syndrome   724015007
  • QRICH1-related intellectual disability, chondrodysplasia syndrome   1220568003
  • Radio-renal syndrome   766765009
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001
  • Ramos Arroyo syndrome   723504000
  • Rapid onset dystonia parkinsonism   702323008
  • Reinhardt Pfeiffer mesomelic dysplasia   715472000
  • Reis-Bucklers' corneal dystrophy   231930000
  • Renal coloboma syndrome   446449009
  • RERE-related neurodevelopmental syndrome   1172624000
  • Reticular dystrophy of retinal pigment epithelium   723502001
  • Reticulate acropigmentation of Kitamura   239133004
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies   774152007
  • Retinal macular dystrophy type 2   770594005
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations   783787000
  • Rhabdoid tumor predisposition syndrome   772130002
  • Rieger syndrome   47507006
  • Ring dermoid of cornea   723499000
  • Roch Leri mesosomatous lipomatosis   716772007
  • Rombo syndrome   721904001
  • Roussy-Lévy syndrome   45853006
  • Saethre-Chotzen syndrome   83015004
  • Scalp defect postaxial polydactyly syndrome   726629006
  • Scalp, ear, nipple syndrome   721888002
  • Schilbach Rott syndrome   721902002
  • Schmitt Gillenwater Kelly syndrome   716092007
  • Schnyder crystalline cornea dystrophy   419395007
  • Seborrhea-like dermatitis with psoriasiform elements   782910009
  • Sellars Beighton syndrome   716243005
  • Sensorineural deafness with dilated cardiomyopathy syndrome   723993005
  • Sensorineural hearing loss, early graying, essential tremor syndrome   723721007
  • Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency   783556000
  • Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome   773400009
  • Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome   773551001
  • Short fifth metacarpal insulin resistance syndrome   721069005
  • Short stature locking fingers syndrome   726734001
  • Short stature with valvular heart disease and characteristic facies syndrome   716193004
  • Short stature, advanced bone age, early-onset osteoarthritis syndrome   1197586007
  • Short stature, pituitary and cerebellar defect and small sella turcica syndrome   721072003
  • Short tarsus with absence of lower eyelashes syndrome   721075001
  • Shprintzen Goldberg craniosynostosis syndrome   719069008
  • Shprintzen Goldberg omphalocele syndrome   716230005
  • SIX2-related frontonasal dysplasia   1172632008
  • Sodium channelopathy-related small fiber neuropathy   782824007
  • Sorsby pseudoinflammatory fundus dystrophy   193410003
  • Southeast Asian ovalocytosis   723623002
  • SOX2 anophthalmia syndrome   698851003
  • Spastic ataxia with congenital miosis   763669001
  • Spheroid body myopathy   765092004
  • Spinal muscular atrophy with lower extremity predominance   772129007
  • Spinocerebellar ataxia type 1   715748006
  • Spinocerebellar ataxia type 10   715754007
  • Spinocerebellar ataxia type 11   719207000
  • Spinocerebellar ataxia type 12   719208005
  • Spinocerebellar ataxia type 13   719209002
  • Spinocerebellar ataxia type 14   719210007
  • Spinocerebellar ataxia type 15/16   716724006
  • Spinocerebellar ataxia type 17   719249005
  • Spinocerebellar ataxia type 18   719250005
  • Spinocerebellar ataxia type 19   719251009
  • Spinocerebellar ataxia type 2   715751004
  • Spinocerebellar ataxia type 20   718771009
  • Spinocerebellar ataxia type 21   718774001
  • Spinocerebellar ataxia type 23   718772002
  • Spinocerebellar ataxia type 25   718770005
  • Spinocerebellar ataxia type 26   718769009
  • Spinocerebellar ataxia type 27   719252002
  • Spinocerebellar ataxia type 28   715824008
  • Spinocerebellar ataxia type 29   715825009
  • Spinocerebellar ataxia type 30   719253007
  • Spinocerebellar ataxia type 31   715826005
  • Spinocerebellar ataxia type 32   719254001
  • Spinocerebellar ataxia type 34   719255000
  • Spinocerebellar ataxia type 35   719300001
  • Spinocerebellar ataxia type 36   711158005
  • Spinocerebellar ataxia type 37   719301002
  • Spinocerebellar ataxia type 38   734021001
  • Spinocerebellar ataxia type 4   715755008
  • Spinocerebellar ataxia type 40   734020000
  • Spinocerebellar ataxia type 41   1208512000
  • Spinocerebellar ataxia type 42   1208513005
  • Spinocerebellar ataxia type 43   1208516002
  • Spinocerebellar ataxia type 45   1279840000
  • Spinocerebellar ataxia type 46   1279839002
  • Spinocerebellar ataxia type 5   719302009
  • Spinocerebellar ataxia type 6   715752006
  • Spinocerebellar ataxia type 7   715726000
  • Spinocerebellar ataxia type 8   715753001
  • Splenogonadal fusion, limb defect, micrognathia syndrome   726724005
  • Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome   732927000
  • Spondyloepimetaphyseal dysplasia Handigodu type   763885008
  • Spondyloepimetaphyseal dysplasia Missouri type   719171005
  • Spondyloepimetaphyseal dysplasia with multiple dislocations   766820007
  • Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome   773300008
  • Spondyloepimetaphyseal dysplasia, Strudwick type   702350003
  • Spondyloepiphyseal dysplasia Cantu type   718765003
  • Spondyloepiphyseal dysplasia Kimberley type   719203001
  • Spondyloepiphyseal dysplasia MacDermot type   718763005
  • Spondyloepiphyseal dysplasia Maroteaux type   719204007
  • Spondyloepiphyseal dysplasia Reardon type   718764004
  • Spondyloepiphyseal dysplasia Stanescu type   1228860003
  • Spondylometaphyseal dysplasia Schmidt type   719304005
  • Spondyloperipheral dysplasia   702339001
  • Stapes ankylosis with broad thumb and toe syndrome   719305006
  • STAT3-related early-onset multisystem autoimmune disease   1197362009
  • Steatocystoma multiplex   109433009
  • Steinfeld syndrome   716233007
  • Stern Lubinsky Durrie syndrome   723584003
  • Stickler syndrome type 1   1010668008
  • Stickler syndrome type 2   1010664005
  • Stickler syndrome type 3   783097004
  • STING-associated vasculopathy with onset in infancy   711164003
  • Striate palmoplantar keratoderma   764958008
  • Subepithelial mucinous corneal dystrophy   723582004
  • Symphalangism Cushing type   1162837001
  • Symphalangism with multiple anomalies of hands and feet syndrome   732955001
  • Syndactyly type 1   715723008
  • Syndactyly type 2   715724002
  • Syndactyly type 3   715725001
  • Syndactyly type 4   719158007
  • Syndactyly type 5   719159004
  • Syndromic microphthalmia type 5   718761007
  • Syndromic orbital border hypoplasia   717337001
  • SYNGAP1-related developmental and epileptic encephalopathy   1222656005
  • Tall stature, scoliosis, macrodactyly of great toe syndrome   770788000
  • Tarsal-carpal coalition syndrome   702312009
  • Temple Baraitser syndrome   725140007
  • Tetramelic monodactyly   770945001
  • Thickened earlobe with conductive deafness syndrome   722476007
  • Thiel-Behnke corneal dystrophy   417065002
  • Thin basement membrane disease   236418003
  • Thoracolaryngopelvic dysplasia   723556008
  • Thrombocythemia with distal limb defect   771511005
  • Thrombomodulin-related bleeding disorder   1197595004
  • Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002
  • Thumb stiffness, brachydactyly, intellectual disability syndrome   733117001
  • Tibial aplasia and ectrodactyly syndrome   715531000
  • Timothy syndrome type 1   699256006
  • Timothy syndrome type 2   719907006
  • Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency   723552005
  • Transthyretin related familial amyloid cardiomyopathy   715655000
  • Tremor, nystagmus, duodenal ulcer syndrome   782935003
  • Trichodysplasia xeroderma syndrome   766812005
  • Trichorhinophalangeal syndrome type 1 and 3   818959006
  • Trigonocephaly with broad thumb syndrome   719949001
  • Triopia   1285322008
  • Triphalangeal thumb and dislocation of patella syndrome   733456002
  • Triphalangeal thumb and polysyndactyly syndrome   719950001
  • Triphalangeal thumb with brachyectrodactyly syndrome   719951002
  • Tuberous sclerosis syndrome   7199000
  • Tubular renal disease with cardiomyopathy syndrome   719839000
  • Turcot syndrome   61665008
  • Ulna metaphyseal dysplasia syndrome   715242008
  • Ulnar mammary syndrome   700211007
  • Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome   719910004
  • Upington disease   719041000
  • Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007
  • Velofacioskeletal syndrome   763616002
  • Vitelliform dystrophy   90036004  removed: 2023-01-31
  • Wellesley Carman French syndrome   715988005
  • White platelet syndrome   718553004
  • White sponge nevus   389203001
  • Whyte Hemingway carpal tarsal phalangeal osteolyses   389274008
  • Witteveen Kolk syndrome   1187122000
  • Wolfram-like syndrome   734022008
  • WT limb blood syndrome   719019000
  • XTE syndrome   7037003
  • Zimmermann-Laband syndrome   699447001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

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