124166007: Deficiency of butyryl-CoA dehydrogenase (disorder)

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

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

203627016 Deficiency of unsaturated acyl-CoA reductase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
203628014 Deficiency of butyryl dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
203629018 Deficiency of butyryl-CoA dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
473029010 Butyryl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
473030017 SCAD - Short chain acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
473031018 Short chain acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
727659013 Deficiency of butyryl-CoA dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of butyryl-CoA dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Is a	Disorder of fatty acid metabolism	false	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets