445274004: deficiëntie van isobutyryl-co-enzym-A-dehydrogenase (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2871840012 Deficiency of isobutyryl-CoA dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971534013 Deficiency of isobutyryl-coenzyme A dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971795010 Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6883401000146115 isobutyryl-CoA-dehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7151621000146114 tekort aan isobutyryl-CoA-dehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11853011000146115 deficiëntie van isobutyryl-co-enzym-A-dehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11853021000146113 isobutyryl-co-enzym-A-dehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11853031000146110 deficiëntie van isobutyryl-co-enzym-A-dehydrogenase (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 isobutyryl-CoA dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Isobutyrylglycinuria (disorder)	Due to	True	Deficiency of isobutyryl-CoA dehydrogenase	Inferred relationship	Some	1
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	Due to	True	Deficiency of isobutyryl-CoA dehydrogenase	Inferred relationship	Some	2

This concept is not in any reference sets