124680001: Deficiency of methylmalonyl-coenzyme A mutase (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
204943016	Deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970811019	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971533019	Deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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