361203007: Malonic aciduria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Malonic aciduria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Malonic aciduria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Malonic aciduria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Malonic aciduria
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Malonic aciduria
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Malonic aciduria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
477703016	Malonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
743244019	Malonic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4594816015	A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.	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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