238000002: gecombineerde deficiëntie van langeketen 3-hydroxyacyl-co-enzym A-dehydrogenase en enoyl-co-enzym-A-hydratase (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase

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
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	Is a	Disorder of fatty acid metabolism	true	Inferred relationship	Some
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	Finding site	Body system structure	false	Inferred relationship	Some

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
356721014	Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971247019	Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971930014	Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5914481000146118	LCHADD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5914491000146116	gecombineerde deficiëntie van 'long chain' 3-hydroxyacyl-co-enzym-A-dehydrogenase en enoyl-co-enzym-A-hydratase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8715001000146117	gecombineerde deficiëntie van langeketen-3-hydroxyacyl-co-enzym A-dehydrogenase en enoyl-co-enzym-A-hydratase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8715011000146115	gecombineerde deficiëntie van langeketen 3-hydroxyacyl-CoA-dehydrogenase en enoyl-CoA-hydratase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8715021000146113	gecombineerde deficiëntie van langeketen 3-hydroxyacyl-co-enzym A-dehydrogenase en enoyl-co-enzym-A-hydratase (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8715031000146110	gecombineerde deficiëntie van langeketen 3-hydroxyacyl-co-enzym A-dehydrogenase en enoyl-co-enzym-A-hydratase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)