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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
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active 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
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429 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 (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Long QT syndrome type 4 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 5 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 2 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
L-ferritin deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Myopathic Ehlers-Danlos syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Myosin storage myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign recurrent intrahepatic cholestasis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 3 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 4 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal hereditary vasopressin resistance Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate collagen VI-related muscular dystrophy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to IKAROS family zinc finger 2 mutation (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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