Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency

Preferred Label : Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency;

ICD-11 definition : Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.;

Details

Origin ID

1184113045;

UMLS CUI

C0268581;

CISMeF manual mappings
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- Holocarboxylase Synthetase Deficiency [NCIt concept]
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
- Holocarboxylase Synthetase Deficiency [NCIt concept]
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- Neonatal Holocarboxylase Synthetase Deficiency [NCIt concept]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- multiple carboxylase deficiency [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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