Biotinidase Deficiency

Preferred Label : Biotinidase Deficiency;

NCIt definition : A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.;

Details

Origin ID

C84598;

UMLS CUI

C0220754;

Automatic exact mappings (from CISMeF team)
- Biotidinase deficiency [PASCAL descriptor]
Currated CISMeF NLP mapping
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency [OMIM Phenotype]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotin deficiency [MeSH Supplementary Concept]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [MeSH Descriptor]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [SNOMED Notion]
DO Cross reference
- biotinidase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- BTD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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