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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 Reference Sets
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

2549 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 True 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 True 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's syndrome Is a True 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
von Willebrand disease type 2 Is a True Autosomal hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital long QT syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some

This concept is not in any reference sets

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