maple syrup urine disease, type 1B

Preferred Label : maple syrup urine disease, type 1B;

MeSH note : MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex;

MeSH synonym : MSUD1B; Maple Syrup Urine Disease, Type IB;

Details

Origin ID

C535711;

UMLS CUI

C2930990;

Automatic exact mappings (from CISMeF team)
- Maple syrup urine disease, type ia [OMIM Phenotype]
MeSH term(s) associated for indexing
- maple syrup urine disease [MeSH Descriptor]
Record concept(s)
- Maple syrup urine disease, type 1B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple syrup urine disease, type ib [OMIM Phenotype]

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