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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Multiple Carboxylase Deficiency [Disease/Finding] | |
| Synonyms |
Carboxylase Deficiency, Multiple Carboxylase Deficiency, Combined Combined Carboxylase Deficiency Multiple Carboxylase Deficiency Deficiency, Multiple Carboxylase Deficiency, Combined Carboxylase |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002049 |
|
| altLabel |
Carboxylase Deficiency, Multiple Carboxylase Deficiency, Combined Combined Carboxylase Deficiency Multiple Carboxylase Deficiency Deficiency, Multiple Carboxylase Deficiency, Combined Carboxylase
|
|
| cui |
C0026755
|
|
| 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.
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|
| MESH DUI |
D009100
|
|
| MeSH name |
Multiple Carboxylase Deficiency
|
|
| MESH UI |
M0014194
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000002049
|
|
| NUI |
N0000002049
|
|
| prefLabel |
Multiple Carboxylase Deficiency [Disease/Finding]
|
|
| tui |
T047
|
|
| subClassOf |
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