Neonatal Holocarboxylase Synthetase Deficiency

Preferred Label : Neonatal Holocarboxylase Synthetase Deficiency;

NCIt synonyms : Neonatal Multiple Carboxylase Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder that is manifested in the neonatal period and is 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 include difficulties in feeding and breathing, skin rash, seizures, lethargy, and coma.;

NCI Metathesaurus CUI : CL449296;

Details

Origin ID

C99247;

UMLS CUI

C0268581;

Currated CISMeF NLP mapping
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT 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
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
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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