multiple carboxylase deficiency

Preferred Label : multiple carboxylase deficiency;

MeSH definition : A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.;

MeSH synonym : multiple carboxylase deficiencies; deficiency, combined carboxylase; carboxylase deficiency, multiple; carboxylase deficiency, combined; deficiencies, combined carboxylase; combined carboxylase deficiency; carboxylase deficiencies, multiple; deficiency, multiple carboxylase; combined carboxylase deficiencies; carboxylase deficiencies, combined; deficiencies, multiple carboxylase;

Wikipedia link : https://en.wikipedia.org/wiki/Multiple carboxylase deficiency;

Details

Origin ID

D009100;

UMLS CUI

C0026755;

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]
Automatic exact mappings (from CISMeF team)
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency [OMIM Phenotype]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Holocarboxylase Synthetase Deficiency [NCIt concept]
- Holocarboxylase synthetase deficiency [OMIM Phenotype]
- Multiple carboxylase deficiency [ICD-11 More detail]
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency [ORDO Disease]
- Multiple carboxylase deficiency (MCD) [LOINC component]
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]
- multiple carboxylase deficiency [Disease (Nov.)]
- multiple carboxylase deficiency [DO Concept]
DO Cross reference
- multiple carboxylase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Classic organic aciduria [ORDO Disease]
- Disorder of energy metabolism [ORDO Disease]
- Metabolic disease with skin involvement [ORDO Disease]
- Other metabolic disease with skin involvement [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
ORDO relation(s)
- Multiple carboxylase deficiency [ORDO Disease]
Record concept(s)
- multiple carboxylase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- multiple carboxylase deficiency, Juvenile-Onset [MeSH Supplementary Concept]
See also
- biotin [MeSH Descriptor]
- biotinidase [MeSH Descriptor]
See also inter- (CISMeF)
- Holocarboxylase synthetase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple carboxylase deficiency [ORDO Disease]
- Multiple carboxylase deficiency [MedDRA Preferred Term]
- Multiple carboxylase deficiency [ICD-11 More detail]
- Multiple carboxylase deficiency (MCD) [LOINC component]
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]
- multiple carboxylase deficiency [DO Concept]
Validated automatic mappings to BTNT
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
- holocarboxylase synthetase deficiency [Disease (Nov.)]

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