237998000: Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (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)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
\Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)

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-coenzyme A dehydrogenase deficiency (disorder)	Is a	Acyl-CoA dehydrogenase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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-coenzyme A dehydrogenase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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
626814010	Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	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
6496941000241114	déficit en 3-hydroxyacyl-CoA (coenzyme A) déshydrogénase des acides gras à chaine courte	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6496951000241112	déficit en 3-hydroxyacyl-coenzyme A déshydrogénase des acides gras à chaine courte	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6496941000241114	déficit en 3-hydroxyacyl-CoA (coenzyme A) déshydrogénase des acides gras à chaine courte	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6496951000241112	déficit en 3-hydroxyacyl-coenzyme A déshydrogénase des acides gras à chaine courte	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module