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1899006: Autosomal hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4278015 Autosomal hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3427 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary gingival fibromatosis Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal dominant hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Some
Familial visceral neuropathy Is a True Autosomal hereditary disorder Inferred relationship Some
Adult hypophosphatasia Is a True Autosomal hereditary disorder Inferred relationship Some
Distal arthrogryposis syndrome Is a False Autosomal hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Retinitis pigmentosa Is a False Autosomal hereditary disorder Inferred relationship Some
Childhood hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Some
HNSHA due to hexokinase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Erythropoietic protoporphyria Is a True Autosomal hereditary disorder Inferred relationship Some
Infantile hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Some
Hereditary spherocytosis Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy Is a False Autosomal hereditary disorder Inferred relationship Some
Robinow syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal recessive hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis Is a False Autosomal hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Non dystrophic myotonia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary glucocorticoid resistance (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Familial primary hypomagnesemia with normocalciuria (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Bone dysplasia Azouz type Is a False Autosomal hereditary disorder Inferred relationship Some
Hypomagnesemia co-occurrent with normocalciuria (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Cataract and microcornea syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Matthew Wood syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Dystrophic epidermolysis bullosa nails only (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Transient bullous dermolysis of newborn (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary hyperekplexia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Omodysplasia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Distal muscular dystrophy Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary anetoderma (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Isolated hereditary congenital facial paralysis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Acral dystrophic epidermolysis bullosa (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal spastic paraplegia type 30 (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Insulin resistance - type A Is a True Autosomal hereditary disorder Inferred relationship Some
Best vitelliform macular dystrophy (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Fundus albipunctatus Is a True Autosomal hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Waardenburg syndrome Is a False Autosomal hereditary disorder Inferred relationship Some
Hartsfield syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Genetic hyperferritinemia without iron overload Is a True Autosomal hereditary disorder Inferred relationship Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Female infertility due to zona pellucida defect (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hyperbiliverdinaemia Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal systemic lupus erythematosus (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Rare isolated myopia Is a True Autosomal hereditary disorder Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal spastic paraplegia type 72 Is a True Autosomal hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2P (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Bleeding diathesis due to collagen receptor defect Is a True Autosomal hereditary disorder Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary isolated aplastic anemia Is a True Autosomal hereditary disorder Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Malignant migrating partial seizures of infancy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Familial congenital mirror movements Is a True Autosomal hereditary disorder Inferred relationship Some
Bifid nose (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Fibrochondrogenesis Is a True Autosomal hereditary disorder Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Brachyolmia Is a True Autosomal hereditary disorder Inferred relationship Some
Treacher Collins syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary clubbing Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease type 2 Is a False Autosomal hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Familial long QT syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Adams-Oliver syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Blount disease Is a True Autosomal hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Erythrokeratodermia variabilis Is a True Autosomal hereditary disorder Inferred relationship Some
Hypodysfibrinogenaemia Is a True Autosomal hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a True Autosomal hereditary disorder Inferred relationship Some
Progressive cone-rod dystrophy Is a True Autosomal hereditary disorder Inferred relationship Some
Female infertility due to oocyte meiotic arrest Is a True Autosomal hereditary disorder Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Trehalase deficiency Is a True Autosomal hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 1 Is a False Autosomal hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Typical nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Actin accumulation myopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Intermediate nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Central core disease Is a True Autosomal hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 1 Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Familial cerebral saccular aneurysm (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 10 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 3 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 12 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 13 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 4 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some

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This concept is not in any reference sets

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