Autosomal hereditary disorder   1899006

SNOMED CT code


SNOMED code1899006
nameAutosomal hereditary disorder
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal hereditary disorder (disorder)
synonymsAutosomal hereditary disorder
parentsHereditary disease   32895009
children
  • 2-hydroxyglutaric aciduria   698870008
  • 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005
  • Acral dystrophic epidermolysis bullosa   733638006
  • Actin accumulation myopathy   702349003
  • Adams-Oliver syndrome   34748004
  • Adult hypophosphatasia   20756002
  • Aicardi Goutieres syndrome   230312006
  • Amyotrophic lateral sclerosis type 1   1201863001
  • Aplasia cutis congenita with epibulbar dermoid syndrome   723554006
  • Arrhythmogenic right ventricular dysplasia   253528005
  • Autoimmune lymphoproliferative syndrome   702444009
  • Autosomal dominant hereditary disorder   11164009
  • Autosomal recessive hereditary disorder   85995004
  • Autosomal semi-dominant severe lipodystrophic laminopathy   1197747005
  • Autosomal spastic paraplegia type 30   763377006
  • Autosomal spastic paraplegia type 72   782727008
  • Autosomal systemic lupus erythematosus   773333003
  • Benign recurrent intrahepatic cholestasis   31155007
  • Bifid nose   787413007
  • Bleeding diathesis due to collagen receptor defect   782934004
  • Blount disease   880067009
  • Brachyolmia   254088006
  • Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000
  • Cataract and microcornea syndrome   722382006
  • Central core disease   43152001
  • Charcot-Marie-Tooth disease type 2P   782826009
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005
  • Combined malonic and methylmalonic aciduria   702365002
  • Congenital dystrophia brevicollis   129581007  removed: 2003-01-31
  • Congenital dystrophia brevicollis   388981000
  • Congenital fiber-type disproportion myopathy due to ACTA1 mutation   1208413008
  • Congenital fiber-type disproportion myopathy due to TPM3 mutation   1208416000
  • Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation   1230272009
  • Congenital ichthyosis, microcephalus, tetraplegia syndrome   1197059004
  • Corticosteroid-binding globulin deficiency   773728004
  • Crigler-Najjar syndrome   28259009
  • Deafness with onychodystrophy syndrome   773735007
  • Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency   783740007
  • Distal muscular dystrophy   58795000
  • Dystrophic epidermolysis bullosa nails only   722436002
  • Erythrokeratodermia variabilis   70041004
  • Erythropoietic protoporphyria   51022005
  • Familial cerebral saccular aneurysm   703226008
  • Familial congenital mirror movements   784348007
  • Familial long QT syndrome   442917000
  • Familial primary hypomagnesemia with normocalciuria   717788000
  • Familial visceral neuropathy   20725005
  • Female infertility due to oocyte meiotic arrest   1172637002
  • Female infertility due to zona pellucida defect   770726004
  • Fibrochondrogenesis   17144009
  • Fundus albipunctatus   764939004
  • Genetic hyperferritinemia without iron overload   766929007
  • Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome   1172696009
  • Hartsfield syndrome   766032007
  • Hereditary anetoderma   733467001
  • Hereditary clubbing   239055005
  • Hereditary gingival fibromatosis   109620006
  • Hereditary glucocorticoid resistance   715402001
  • Hereditary hyperekplexia   724351008
  • Hereditary hypotrichosis simplex   723362004
  • Hereditary isolated aplastic anemia   783255002
  • Hereditary spherocytosis   55995005
  • Hereditary von Willebrand disease   1259242002
  • HNSHA due to hexokinase deficiency   42484009
  • Hyperandrogenism due to cortisone reductase deficiency   783696009
  • Hyperbiliverdinemia   771441005
  • Hypermobile Ehlers-Danlos syndrome   30652003
  • Hypodysfibrinogenemia   234458004
  • Hypomagnesemia co-occurrent with normocalciuria   721172000
  • Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome   723363009
  • Insulin resistance - type A   237651005
  • Intermediate nemaline myopathy   1197156008
  • Isolated hereditary congenital facial paralysis   733091002
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency   1216941002
  • L-ferritin deficiency   1217208003
  • Malignant migrating partial seizures of infancy   784345005
  • Matthew Wood syndrome   722458000
  • Megacystis, microcolon, hypoperistalsis syndrome   253781004
  • Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome   1237514002
  • Myopathic Ehlers-Danlos syndrome   1255116001
  • Myosin storage myopathy   699267007
  • Non dystrophic myotonia   424795008
  • Omodysplasia   725164008
  • Osteogenesis imperfecta type 5   1003379004
  • Progressive cone-rod dystrophy   80328002
  • Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome   442511009
  • Rare isolated myopia   773771008
  • Robinow syndrome   76520005
  • Short stature due to growth hormone secretagogue receptor deficiency   766817004
  • Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006
  • Transient bullous dermolysis of newborn   723553000
  • Treacher Collins syndrome   82203000
  • Trehalase deficiency   84193000
  • Typical nemaline myopathy   1197153000
  • Vascular Ehlers-Danlos syndrome   17025000
  • Waardenburg Shah syndrome   715952000
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

ancestors
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