Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
Jump to:
| Preferred Name | Niemann-Pick Disease, Type A [Disease/Finding] | |
| Synonyms |
Type A Niemann-Pick Disease Sphingomyelinase Deficiency Disease Niemann-Pick's Disease Type A Neuronal Cholesterol Lipidosis Niemann-Pick Disease, Neuronopathic Type Sphingomyelin Lipidosis Sphingomyelinase Deficiency Sphingomyelin Cholesterol Lipidosis Niemann-Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Type A Niemann-Pick Disease, Acute Neuronopathic Form Classical Niemann-Pick Disease Ophthalmoplegia, Supraoptic Vertical |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181096 |
|
| altLabel |
Type A Niemann-Pick Disease Sphingomyelinase Deficiency Disease Niemann-Pick's Disease Type A Neuronal Cholesterol Lipidosis Niemann-Pick Disease, Neuronopathic Type Sphingomyelin Lipidosis Sphingomyelinase Deficiency Sphingomyelin Cholesterol Lipidosis Niemann-Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Type A Niemann-Pick Disease, Acute Neuronopathic Form Classical Niemann-Pick Disease Ophthalmoplegia, Supraoptic Vertical
|
|
| cui |
C0268242
|
|
| MESH DEFINITION |
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
|
|
| MESH DUI |
D052536
|
|
| MeSH name |
Niemann-Pick Disease, Type A
|
|
| MESH UI |
M0335783
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000181096
|
|
| NUI |
N0000181096
|
|
| prefLabel |
Niemann-Pick Disease, Type A [Disease/Finding]
|
|
| tui |
T047
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping