124427009: Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder)

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

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

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

728115017 Deficiency of 3-hydroxyisobutyryl CoA hydrolase (disorder) en Fully specified name 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

3419481001000117 Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4773661000241115 déficit en 3-hydroxyisobutyryl CoA hydrolase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4773661000241115 déficit en 3-hydroxyisobutyryl CoA hydrolase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3419481001000117 Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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 coenzyme A hydrolase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets