Multiple carboxylase deficiency due to biotinidase deficiency

Preferred Label : Multiple carboxylase deficiency due to biotinidase deficiency;

ICD-11 definition : Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.;

Details

Origin ID

1336432647;

UMLS CUI

C0220754;

Automatic exact mappings (from CISMeF team)
- multiple carboxylase deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency [OMIM Phenotype]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [SNOMED Notion]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [MeSH Descriptor]
See also inter- (CISMeF)
- biotin deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency [OMIM Phenotype]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [MeSH Descriptor]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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