methylmalonate semialdehyde dehydrogenase deficiency

Preferred Label : methylmalonate semialdehyde dehydrogenase deficiency;

MeSH synonym : MMSDH deficiency;

Origin ID

C566402;

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 [ICD-11 More detail]
- Methylmalonate semialdehyde dehydrogenase deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- methylmalonate-semialdehyde dehydrogenase (acylating) [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 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 [ICD-11 More detail]