124122005: Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 3-hydroxyacyl-CoA dehydrogenase
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
203527011	Deficiency of beta-keto-reductase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203528018	Deficiency of beta-hydroxyacyl dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203529014	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
727608012	Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
203527011	Deficiency of beta-keto-reductase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
203527011	Deficiency of beta-keto-reductase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203528018	Deficiency of beta-hydroxyacyl dehydrogenase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
203528018	Deficiency of beta-hydroxyacyl dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203529014	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
727608012	Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3395081001000115	3-Hydroxyacyl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4769101000241118	déficit en 3-hydroxyacyl-CoA déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4769101000241118	déficit en 3-hydroxyacyl-CoA déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395081001000115	3-Hydroxyacyl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module