Holocarboxylase Synthetase Deficiency

Preferred Label : Holocarboxylase Synthetase Deficiency;

NCIt synonyms : Multiple Carboxylase Deficiency;

NCIt related terms : Neonatal Multiple Carboxylase Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma.;

Details

Origin ID

C98842;

UMLS CUI

C0268581;

Currated CISMeF NLP mapping
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency [ORDO Disease]
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
- holocarboxylase synthetase deficiency [DO Concept]
- multiple carboxylase deficiency [MeSH Descriptor]
- multiple carboxylase deficiency [Disease (Nov.)]
- multiple carboxylase deficiency [MeSH concept]
- multiple carboxylase deficiency [DO Concept]
DO Cross reference
- holocarboxylase synthetase deficiency [DO Concept]
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 synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HLCS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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