Methylmalonate semialdehyde dehydrogenase deficiency

Preferred Label : Methylmalonate semialdehyde dehydrogenase deficiency;

ICD-11 definition : This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways.;

Details

Origin ID

1700759193;

UMLS CUI

C3279840;

Currated CISMeF NLP mapping
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency [ORDO Disease]
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Methylmalonate semialdehyde dehydrogenase deficiency [OMIM Phenotype]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency [ORDO Disease]
- Methylmalonate semialdehyde dehydrogenase deficiency [OMIM Phenotype]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients