237946002: Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase
• \Congenital disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase\Partial deficiency of methylmalonyl-coenzyme A mutase

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356626012	Partial deficiency of methylmalonyl-CoA mutase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
356627015	Mutase- methylmalonic acidaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356628013	Mutase- methylmalonic acidemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
626753014	Partial deficiency of methylmalonyl-CoA mutase (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2971049011	Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
2971449019	Partial deficiency of methylmalonyl-coenzyme A mutase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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