methionine malabsorption syndrome

Preferred Label : methionine malabsorption syndrome;

MeSH synonym : Smith-Strang disease; oasthouse urine disease;

Origin ID

C562682;

UMLS CUI

C0268622;

Currated CISMeF NLP mapping
- Familial methionine malabsorption (disorder) [SNOMED CT concept]
- Methionine malabsorption syndrome [OMIM Phenotype]
- familial methionine malabsorption [SNOMED Notion]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- methionine [MeSH Descriptor]
- respiration disorders [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- methionine malabsorption syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial methionine malabsorption (disorder) [SNOMED CT concept]
- Methionine malabsorption syndrome [OMIM Phenotype]
- familial methionine malabsorption [SNOMED Notion]