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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Niemann-Pick Diseases [Disease/Finding] | |
| Synonyms |
Niemann-Pick Disease Niemann-Pick Diseases |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002187 |
|
| altLabel |
Niemann-Pick Disease Niemann-Pick Diseases
|
|
| cui |
C0028064
|
|
| MESH DEFINITION |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
|
|
| MESH DUI |
D009542
|
|
| MeSH name |
Niemann-Pick Diseases
|
|
| MESH UI |
M0014846
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000002187
|
|
| NUI |
N0000002187
|
|
| prefLabel |
Niemann-Pick Diseases [Disease/Finding]
|
|
| SNOMED CID |
58459009
|
|
| tui |
T047
|
|
| subClassOf |
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