124427009: deficiëntie van 3-hydroxyisobutyrylco-enzym-A-hydrolase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 3-hydroxyisobutyryl 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

204299013 Deficiency of 3-hydroxyisobutyryl CoA hydrolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971137013 Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971325016 Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3332448014 Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6868521000146116 3-hydroxyisobutyryl-CoA-hydrolasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7063461000146118 3-hydroxyisobutyrylco-enzym-A-hydrolasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7063471000146112 deficiëntie van 3-hydroxyisobutyrylco-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)

7149241000146118 tekort aan 3-hydroxyisobutyryl-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)

8636521000146113 deficiëntie van 3-hydroxyisobutyrylco-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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 3-hydroxyisobutyryl CoA hydrolase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of 3-hydroxyisobutyryl CoA hydrolase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)	Due to	True	Deficiency of 3-hydroxyisobutyryl CoA hydrolase	Inferred relationship	Some	1

This concept is not in any reference sets