Multiple carboxylase deficiency

Preferred Label : Multiple carboxylase deficiency;

ICD-11 definition : Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency.;

Details

Origin ID

1133091451;

UMLS CUI

C0026755;

Currated CISMeF NLP mapping
- Multiple carboxylase deficiency [ORDO Disease]
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency (MCD) [LOINC component]
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]
- multiple carboxylase deficiency [MeSH concept]
- multiple carboxylase deficiency [DO Concept]
- multiple carboxylase deficiency [MeSH Descriptor]
- multiple carboxylase deficiency [Disease (Nov.)]
See also inter- (CISMeF)
- Holocarboxylase synthetase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency [ORDO Disease]
- Multiple carboxylase deficiency (MCD) [LOINC component]
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]
- multiple carboxylase deficiency [DO Concept]
- multiple carboxylase deficiency [MeSH Descriptor]
- multiple carboxylase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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