thiamin-responsive maple syrup urine disease

Preferred Label : thiamin-responsive maple syrup urine disease;

Origin ID

D6-B0140;

UMLS CUI

C0751285;

Currated CISMeF NLP mapping
- Thiamin-responsive maple syrup urine disease (disorder) [SNOMED CT concept]
- Thiamine-responsive maple syrup urine disease [ORDO Disease]
- maple syrup urine disease, thiamine responsive [MeSH concept]
ICD-10 exact mapping(s)
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Thiamin-responsive maple syrup urine disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thiamin-responsive maple syrup urine disease (disorder) [SNOMED CT concept]
- Thiamine-responsive maple syrup urine disease [ORDO Disease]
- maple syrup urine disease, thiamine responsive [MeSH concept]
Validated automatic mappings to NTBT
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disorder [Disease (Nov.)]