holocarboxylase synthetase deficiency

Preferred Label : holocarboxylase synthetase deficiency;

MeSH definition : The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).;

MeSH synonym : deficiency, holocarboxylase synthetase; deficiencies, holocarboxylase synthetase; holocarboxylase synthetase deficiencies; carboxylase deficiency, multiple, neonatal form; deficiency, multiple carboxylase, neonatal form; multiple carboxylase deficiency, neonatal form; multiple carboxylase deficiency, early onset; HLCS deficiency; deficiencies, HLCS; deficiency, HLCS; HLCS deficiencies; Early-Onset Biotin-Responsive multiple carboxylase deficiency; early onset biotin responsive multiple carboxylase deficiency; Early-Onset combined carboxylase deficiency; early onset combined carboxylase deficiency; infantile multiple carboxylase deficiency;

Wikipedia link : https://en.wikipedia.org/wiki/Holocarboxylase synthetase deficiency;

Details

Origin ID

D028922;

UMLS CUI

C0268581;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- 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]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
DO Cross reference
- holocarboxylase synthetase deficiency [DO Concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Mild-moderate hyperammonemia [HPO term]
ORDO relation(s)
- Holocarboxylase synthetase deficiency [ORDO Disease]
Record concept(s)
- holocarboxylase synthetase deficiency [MeSH concept]
See also
- biotin [MeSH Descriptor]
See also (suggested by CISMeF)
- holocarboxylase synthetases [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency [ORDO Disease]
- multiple carboxylase deficiency [Disease (Nov.)]
- multiple carboxylase 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 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]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
- Neonatal Holocarboxylase Synthetase Deficiency [NCIt concept]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]

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