Intermediate maple-syrup-urine disease

Preferred Label : Intermediate maple-syrup-urine disease;

ICD-11 definition : This is an intermediate autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.;

ICD-11 synonym : Intermediate branched chain ketoaciduria; Partial branched-chain ketoacid dehydrogenase deficiency;

Details

Origin ID

1234820241;

UMLS CUI

C1621920;

Currated CISMeF NLP mapping
- Intermediate maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease (disorder) [SNOMED CT concept]
- intermediate maple syrup urine disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intermediate maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease (disorder) [SNOMED CT concept]
- intermediate maple syrup urine disease [MeSH concept]
Validated automatic mappings to NTBT
- maple syrup urine disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients