771444002: Methylmalonic aciduria due to transcobalamin receptor defect (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylmalonic aciduria due to transcobalamin receptor defect
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Methylmalonic aciduria due to transcobalamin receptor defect
• \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 aciduria due to transcobalamin receptor defect
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Methylmalonic aciduria due to transcobalamin receptor defect
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Methylmalonic aciduria due to transcobalamin receptor defect

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706222012	Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706223019	Methylmalonic acidaemia TCb1R type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706224013	Methylmalonic aciduria due to transcobalamin receptor defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3706225014	Methylmalonic acidemia TCb1R type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706226010	A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).	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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