765137006: Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidemia\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Congenital disease\Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3657144012	Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3657145013	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3657146014	Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3657148010	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3657149019	Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3657150019	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3657151015	Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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