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 acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidaemia\Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
• \Congenital disease\Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3657144012	Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657145013	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657146014	Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657148010	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3657149019	Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657150019	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657151015	Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657147017	A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic.	en	Definition	Active	Case sensitive	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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