124166007: Deficiency of butyryl-CoA dehydrogenase (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of butyryl-CoA dehydrogenase

\trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Deficiency of butyryl-CoA dehydrogenase
\trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of butyryl-CoA dehydrogenase
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of butyryl-CoA dehydrogenase
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of fatty acid metabolism\Deficiency of butyryl-CoA dehydrogenase

\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\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

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	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	est un(e) (attribut)	Disorder of fatty acid metabolism	true	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)