124428004: deficiëntie van hydroxymethylglutarylco-enzym A-hydrolase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of hydroxymethylglutaryl-CoA hydrolase

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

204300017 Deficiency of hydroxymethylglutaryl-CoA hydrolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728116016 Deficiency of hydroxymethylglutaryl-CoA hydrolase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7151451000146115 tekort aan hydroxymethylglutaryl-CoA-hydrolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7151461000146117 deficiëntie van hydroxymethylglutaryl-CoA-hydrolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11671761000146114 deficiëntie van hydroxymethylglutarylco-enzym A-hydrolase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11671771000146115 deficiëntie van hydroxymethylglutarylco-enzym A-hydrolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of hydroxymethylglutaryl-CoA hydrolase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA hydrolase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets