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-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Deficiency of methylmalonyl-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of methylmalonyl-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase
• \Congenital disease\Inborn error of metabolism\Deficiency of methylmalonyl-CoA mutase\Partial deficiency of methylmalonyl-CoA mutase

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

Descriptions:

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

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