237998000: deficiëntie van korteketen-3-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)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-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)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-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
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Is a	Acyl-CoA dehydrogenase deficiency	true	Inferred relationship	Some
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Due to	True	Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356714014	Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971390015	Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971693010	Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5338041000146114	SCHAD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928471000146111	deficiëntie van korteketen-3-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)
9928481000146113	deficiëntie van korteketen-3-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)
9928491000146110	korteketen-3-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)
9928501000146117	deficiëntie van 'short chain'-3-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)