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\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Methylmalonic aciduria due to transcobalamin receptor defect
• \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 aciduria due to transcobalamin receptor defect
• \Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Methylmalonic aciduria due to transcobalamin receptor defect
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Methylmalonic aciduria due to transcobalamin receptor defect

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706222012	Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3706223019	Methylmalonic acidaemia TCb1R type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3706224013	Methylmalonic aciduria due to transcobalamin receptor defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3706225014	Methylmalonic acidemia TCb1R type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start