82319005: Acyl-coenzyme A dehydrogenase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-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
\Metabolic disease\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Acyl-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

\Congenital disease (disorder)\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-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	Reference Sets
136544017	Acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2478870019	Deficiency of acyl-CoA dehydrogenase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2971050011	Acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2971966010	Acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1796171000005118	Acyl-CoA-dehydrogenasemangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acyl-CoA dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Is a	Disorder of fatty acid metabolism (disorder)	false	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Acyl-CoA dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Long chain acyl-CoA dehydrogenase deficiency	Is a	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some
Very long chain acyl-CoA dehydrogenase deficiency	Is a	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Is a	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Is a	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)	Due to	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some	2
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	True	Acyl-CoA dehydrogenase deficiency	Inferred relationship	Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)