biotin-(propionyl-coa-carboxylase) ligase deficiency - CISMeF

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CISMeF

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Biotin-(propionyl-coa-carboxylase) ligase deficiencySNOMED Notion

Preferred Label : biotin-(propionyl-coa-carboxylase) ligase deficiency;

Details

Origin ID

D6-B1420;

UMLS CUI

C0268581;

Currated CISMeF NLP mapping
- 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 [DO Concept]
- holocarboxylase synthetase deficiency [MeSH concept]
ICD-10 exact mapping(s)
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- biotin-[propionyl-coa-carboxylase,(atp-hydrolysing)] ligase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
See also inter- (CISMeF)
- Holocarboxylase synthetase deficiency [ORDO Disease]
- 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]
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
- Neonatal Holocarboxylase Synthetase Deficiency [NCIt concept]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
- holocarboxylase synthetase deficiency [DO Concept]
Validated automatic mappings to NTBT
- holocarboxylase synthetase deficiency [MeSH Descriptor]

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18/05/2024

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