Biotinidase deficiency

Preferred Label : Biotinidase deficiency;

LOINC status : ACTIVE;

Synonyme UMLS : Multiple carboxylase deficiency - late onset; Juvenile multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency; Deficiency of biotinidase; Multiple carboxylase deficiency, due to biotinidase deficiency;

UMLS MTHU# : MTHU021599;

Details

Origin ID

LP56771-6;

UMLS CUI

C0220754;

Automatic exact mappings (from CISMeF team)
- Biotidinase deficiency [PASCAL descriptor]
- multiple carboxylase deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [OMIM Phenotype]
- 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]
- 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]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Mild hyperammonemia [HPO term]
LOINC code(s)
- Biotinidase deficiency newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar: [LOINC code]
- Biotinidase deficiency:Imp:Pt:Bld.dot:Nom: [LOINC code]
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 (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotinidase deficiency [MeSH Descriptor]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients