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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
Long QT syndrome type 4 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 5 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 2 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
L-ferritin deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Myopathic Ehlers-Danlos syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier
Hereditary von Willebrand disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier

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