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\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

\Fetal and/or neonatal disorder\Congenital 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\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)\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:

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

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

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
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.	Due to	True	Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Inferred relationship	Some	2

This concept is not in any reference sets