Intermittent maple-syrup-urine disease

Preferred Label : Intermittent maple-syrup-urine disease;

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

ICD-11 synonym : Intermittent branched chain ketoaciduria;

Details

Origin ID

953441965;

UMLS CUI

C0268569;

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

Keyword's position in hierarchy(ies) :

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