1899006: Autosomal hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary 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

10058811000172117 trouble héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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
Long QT syndrome type 4 (disorder)	Is a	False	Autosomal hereditary disorder	Inferred relationship	Some
Long QT syndrome type 5 (disorder)	Is a	False	Autosomal hereditary disorder	Inferred relationship	Some
Long QT syndrome type 2 (disorder)	Is a	False	Autosomal hereditary disorder	Inferred relationship	Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
L-ferritin deficiency (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Myopathic Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Myosin storage myopathy (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Aicardi Goutieres syndrome	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Benign recurrent intrahepatic cholestasis	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some
Vascular Ehlers-Danlos syndrome	Is a	True	Autosomal hereditary disorder	Inferred relationship	Some

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Reference Sets

Belgian GP subset (foundation metadata concept)