Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
Jump to:
| Preferred Name | Biotinidase Deficiency [Disease/Finding] | |
| Synonyms |
Biotinidase Deficiency Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000010998 |
|
| altLabel |
Biotinidase Deficiency Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
|
| cui |
C0220754
|
|
| 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 DUI |
D028921
|
|
| MeSH name |
Biotinidase Deficiency
|
|
| MESH UI |
M0381891
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000010998
|
|
| NUI |
N0000010998
|
|
| prefLabel |
Biotinidase Deficiency [Disease/Finding]
|
|
| SNOMED CID |
8808004
|
|
| tui |
T047
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping