FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

1899006: Autosomal hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4277013 Autosomal hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3210 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary gingival fibromatosis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Familial visceral neuropathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Adult hypophosphatasia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Crigler-Najjar syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Childhood hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Erythropoietic protoporphyria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Infantile hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary spherocytosis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hollow viscus myopathy Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Robinow syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital dystrophia brevicollis Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital dystrophia brevicollis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Non dystrophic myotonia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary glucocorticoid resistance Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Familial primary hypomagnesemia with normocalciuria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Bone dysplasia Azouz type Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hypomagnesemia co-occurrent with normocalciuria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Cataract and microcornea syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Matthew Wood syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Dystrophic epidermolysis bullosa nails only Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hypotrichosis simplex Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Aplasia cutis congenita with epibulbar dermoid syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Transient bullous dermolysis of newborn Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hyperekplexia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Omodysplasia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Distal muscular dystrophy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary anetoderma Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Isolated hereditary congenital facial paralysis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Acral dystrophic epidermolysis bullosa Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal spastic paraplegia type 30 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Insulin resistance - type A Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Best vitelliform macular dystrophy Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Fundus albipunctatus Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg syndrome Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Short stature due to growth hormone secretagogue receptor deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Genetic hyperferritinemia without iron overload Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Female infertility due to zona pellucida defect Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hyperbiliverdinemia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal systemic lupus erythematosus Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Rare isolated myopia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Corticosteroid-binding globulin deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Deafness with onychodystrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Skin fragility, wooly hair, palmoplantar keratoderma syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal spastic paraplegia type 72 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2P Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Bleeding diathesis due to collagen receptor defect Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary isolated aplastic anemia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hyperandrogenism due to cortisone reductase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Malignant migrating partial seizures of infancy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Familial congenital mirror movements Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Bifid nose Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Fibrochondrogenesis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Megacystis, microcolon, hypoperistalsis syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Brachyolmia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Treacher Collins syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary clubbing Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary von Willebrand disease type 2 Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital long QT syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Arrhythmogenic right ventricular dysplasia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Adams-Oliver syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Blount disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type 5 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Erythrokeratodermia variabilis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hypodysfibrinogenemia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Combined malonic and methylmalonic aciduria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Progressive cone-rod dystrophy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Female infertility due to oocyte meiotic arrest Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Trehalase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 1 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Typical nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Actin accumulation myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Intermediate nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Central core disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 1 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Familial cerebral saccular aneurysm Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 11 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 10 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 3 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 12 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 13 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 4 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier

Page 1 of 2 End

This concept is not in any reference sets

Back to Start