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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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