702365002: Combined malonic and methylmalonic aciduria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined malonic and methylmalonic aciduria
• \Autosomal hereditary disorder\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Combined malonic and methylmalonic aciduria
• \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\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Combined malonic and methylmalonic aciduria
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Combined malonic and methylmalonic aciduria
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Combined malonic and methylmalonic aciduria

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995217019	CMAMMA - combined malonic and methylmalonic aciduria	en	Synonym	Active	Case sensitive	SNOMED CT core
2995400012	Combined malonic and methylmalonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
2995645019	Combined malonic and methylmalonic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4594817012	A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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