OMOP Concept 4029728
Partial deficiency of methylmalonyl-CoA mutase
StandardConditionSNOMED237946002Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Partial deficiency of methylmalonyl-CoA mutase across source vocabularies.
- deficiencia parcial de metilmalonil-CoA mutasa
- deficiencia parcial de metilmalonil-coenzima A mutasa
- deficiencia parcial de metilmalonil-coenzima A mutasa relacionada con el gen MMUT
- deficiencia parcial de metilmalonil-coenzima A mutasa (trastorno)
- MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase
- Mutase- methylmalonic acidaemia
- Mutase- methylmalonic acidemia
- Partial deficiency of methylmalonyl-coenzyme A mutase
- Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)
- Vitamin B12-unresponsive methylmalonic acidaemia type mut-
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Deficiency of methylmalonyl-CoA mutase
- 2Autosomal recessive hereditary disorder
- 2Deficiency of mutase
- 2Disorder of propionate AND/OR methylmalonate metabolism
- 2Inborn error of metabolism
- 3Autosomal hereditary disorder
- 3Congenital disease
- 3Deficiency of isomerase
- 3Disorder of organic acid metabolism
- 3Hereditary metabolic disease
- 4Fetal and/or neonatal disorder
- 4Hereditary disease
- 4Metabolic disease
- 4Specific enzyme deficiency
- 5Disease
- 5Enzymopathy
- 5Genetic disease
- 6Clinical finding
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