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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002791
http://purl.bioontology.org/ontology/NDFRT/N0000002791
|
|---|---|
| Preferred Name | Sphingolipidoses [Disease/Finding] |
| Synonyms |
Sphingolipid Storage Diseases
Sphingolipidosis
Sphingolipidoses
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Sphingolipid Storage Diseases
Sphingolipidosis
Sphingolipidoses
|
|---|---|
| prefLabel | Sphingolipidoses [Disease/Finding]
|
| notation | N0000002791
|
| MESH DEFINITION | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
|
| MESH UI | M0020298
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Sphingolipidoses
|
| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID | 238028008
|
| tui | T047
|
| NUI | N0000002791
|
| cui | C0037899
|
| MESH DUI | D013106
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |