237945003: Complete 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)\Complete deficiency of methylmalonyl-CoA mutase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-coenzyme A mutase (disorder)\Complete deficiency of methylmalonyl-CoA mutase
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)\Complete deficiency of methylmalonyl-CoA mutase
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of isomerase\Deficiency of mutase\Deficiency of methylmalonyl-coenzyme A mutase (disorder)\Complete deficiency of methylmalonyl-CoA mutase

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
356623016	Mutase0 methylmalonic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356624010	Complete deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356625011	Mutase0 methylmalonic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2971387014	Complete deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971787011	Complete deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5314976018	Vitamin B12-unresponsive methylmalonic acidaemia type mut0	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5314977010	Vitamin B12-unresponsive methylmalonic acidemia type mut0	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5314978017	MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5314979013	Vitamin B12-unresponsive methylmalonic aciduria type mut0	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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