87827003: Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isovaleryl-CoA dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Isovaleryl-CoA dehydrogenase deficiency
• \Metabolic disease\Enzymopathy\Isovaleryl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Isovaleryl-CoA dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1235279018	Isovaleric acid-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
145603018	Isovaleryl-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
145604012	Isovaleric acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
145605013	Isovaleric acid CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2971563011	Isovaleryl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2971687019	Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
507767017	Isovaleric acidaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
830382013	Isovaleryl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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