biotinidase deficiency

Preferred Label : biotinidase deficiency;

MeSH definition : The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.;

MeSH synonym : carboxylase deficiency, multiple, late-onset; deficiency, multiple carboxylase, late-onset; multiple carboxylase deficiency, late-onset; multiple carboxylase deficiency, late onset; biotinidase deficiencies; deficiencies, biotinidase; deficiency, biotinidase; Late-Onset multiple carboxylase deficiency; late onset multiple carboxylase deficiency; BTD deficiency; BTD deficiencies; deficiencies, BTD; deficiency, BTD; Late-Onset Biotin-Responsive multiple carboxylase deficiency; late onset biotin responsive multiple carboxylase deficiency;

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

Details

Origin ID

D028921;

UMLS CUI

C0220754;

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)
- Biotidinase deficiency [PASCAL descriptor]
Currated CISMeF NLP mapping
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [OMIM Phenotype]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [SNOMED Notion]
DO Cross reference
- biotinidase deficiency [DO Concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Mild hyperammonemia [HPO term]
Manual NTBT mappings (CISMeF)
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- biotinidase [MeSH Descriptor]
ORDO relation(s)
- Biotinidase deficiency [ORDO Disease]
Record concept(s)
- biotinidase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- biotin deficiency [MeSH Supplementary Concept]
See also
- biotin [MeSH Descriptor]
- biotinidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [OMIM Phenotype]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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