237945003: Complete 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\Complete deficiency of methylmalonyl-CoA mutase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-CoA mutase\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-CoA mutase\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Deficiency of methylmalonyl-CoA mutase\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of methylmalonyl-CoA mutase\Complete deficiency of methylmalonyl-CoA mutase
• \Congenital disease\Inborn error of metabolism\Deficiency of methylmalonyl-CoA mutase\Complete deficiency of methylmalonyl-CoA mutase

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2971387014	Complete deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2971787011	Complete deficiency of methylmalonyl-coenzyme A mutase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
356623016	Mutase0 methylmalonic acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
356624010	Complete deficiency of methylmalonyl-CoA mutase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
356625011	Mutase0 methylmalonic acidaemia	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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