Classical maple-syrup-urine disease

Preferred Label : Classical maple-syrup-urine disease;

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

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

Details

Origin ID

1568461954;

UMLS CUI

C0268568;

Automatic exact mappings (from CISMeF team)
- Classic maple syrup urine disease [ORDO Disease]
- maple syrup urine disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Classical maple syrup urine disease (disorder) [SNOMED CT concept]
- classical maple syrup urine disease [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic maple syrup urine disease [ORDO Disease]
- Classical maple syrup urine disease (disorder) [SNOMED CT concept]
- classic maple syrup urine disease [MeSH concept]
- classical maple syrup urine disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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