Dr Z's Coding References
Cardiothoracic Surgery
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Autosomal hereditary disorder 1899006 SNOMED CT code SNOMED code 1899006 name Autosomal hereditary disorder status active date introduced 2002-01-31 fully specified name(s) Autosomal hereditary disorder (disorder) synonyms Autosomal hereditary disorder parents Hereditary 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 Adult hypophosphatasia 20756002 Aplasia cutis congenita with epibulbar dermoid syndrome 723554006 Autosomal dominant hereditary disorder 11164009 Autosomal recessive hereditary disorder 85995004 Autosomal spastic paraplegia type 30 763377006 Autosomal spastic paraplegia type 72 782727008 Autosomal systemic lupus erythematosus 773333003 Bifid nose 787413007 Bleeding diathesis due to collagen receptor defect 782934004 Brachyolmia 254088006 Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000 Cataract and microcornea syndrome 722382006 Charcot-Marie-Tooth disease type 2P 782826009 Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005 Congenital dystrophia brevicollis 388981000 Congenital dystrophia brevicollis 129581007 removed: 2003-01-31 Corticosteroid-binding globulin deficiency 773728004 Crigler-Najjar syndrome 28259009 Deafness with onychodystrophy syndrome 773735007 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 783740007 Distal arthrogryposis syndrome 24269006 Distal muscular dystrophy 58795000 Dystrophic epidermolysis bullosa nails only 722436002 Erythropoietic protoporphyria 51022005 Familial congenital mirror movements 784348007 Familial primary hypomagnesemia with normocalciuria 717788000 Familial visceral neuropathy 20725005 Female infertility due to zona pellucida defect 770726004 Fibrochondrogenesis 17144009 Fundus albipunctatus 764939004 Genetic hyperferritinemia without iron overload 766929007 Hartsfield syndrome 766032007 Hereditary anetoderma 733467001 Hereditary gingival fibromatosis 109620006 Hereditary glucocorticoid resistance 715402001 Hereditary hyperekplexia 724351008 Hereditary hypotrichosis simplex 723362004 Hereditary isolated aplastic anemia 783255002 Hereditary isolated hypoparathyroidism due to impaired parathormone secretion 717898002 Hereditary spherocytosis 55995005 HNSHA due to hexokinase deficiency 42484009 Hyperandrogenism due to cortisone reductase deficiency 783696009 Hyperbiliverdinemia 771441005 Hypomagnesemia co-occurrent with normocalciuria 721172000 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 723363009 Insulin resistance - type A 237651005 Isolated hereditary congenital facial paralysis 733091002 Malignant migrating partial seizures of infancy 784345005 Matthew Wood syndrome 722458000 Megacystis, microcolon, hypoperistalsis syndrome 253781004 Non dystrophic myotonia 424795008 Omodysplasia 725164008 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 Waardenburg's syndrome 47434006 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 782964007 32895009 1899006 ancestors sorted most to least specific
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