445274004: Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder)

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

5347561000241116 déficit en isobutyryl-CoA déshydrogénase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3428461001000110 Isobutyryl-CoA-Dehydrogenasemangel 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 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
An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	Due to	True	Deficiency of isobutyryl-CoA dehydrogenase	Inferred relationship	Some	2

This concept is not in any reference sets