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-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

\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-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\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 (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\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

Reference Sets

Belgian subset for medical problems in patient health records

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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
14646511000172110	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)	Belgian module (core metadata concept)
14646521000172117	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)	Belgian module (core metadata concept)
5030011000172119	SCHAD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5030021000172112	deficiëntie van 'short chain'-3-hydroxyacyl-CoA-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5030031000172110	korteketen-3-hydroxyacyl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5030041000172115	deficiëntie van korteketen-3-hydroxyacyl-co-enzym-A-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)