307127004: geïsoleerde deficiëntie van langeketen-hydroxyacyl-co-enzym A-dehydrogenase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

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
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	Is a	Mitochondrial trifunctional protein deficiency	true	Inferred relationship	Some
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	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
450307015	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
450308013	LCHAD - Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
703610018	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
8637281000146110	geïsoleerde deficiëntie van langeketen-hydroxyacyl-co-enzym A-dehydrogenase (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717011000146111	geïsoleerde langeketen-hydroxyacyl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717021000146118	geïsoleerde deficiëntie van langeketen-hydroxyacyl-co-enzym A-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717031000146116	geïsoleerde deficiëntie van langeketen-hydroxyacyl-CoA-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717041000146112	geïsoleerde langeketen-hydroxyacyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12721161000146117	LCHAD-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12721171000146111	Long-chain-hydroxyacyl-CoA-dehydrogenasedeficiëntie; erfelijke stofwisselingsziekte waarbij niet alle vetten goed worden omgezet in energie; ook kunnen leverproblemen en problemen met de ogen ontstaan.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)