11164009: Autosomal dominant hereditary disorder (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary disorder	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Marfan's syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Darier disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Huntington's chorea	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic kidney disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myotonic dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
HNPCC - hereditary nonpolyposis colon cancer	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hypokalemic periodic paralysis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

Reference Sets