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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003414
http://purl.bioontology.org/ontology/NDFRT/N0000003414
|
|---|---|
| Preferred Name | Lysosomal Storage Diseases [Disease/Finding] |
| Synonyms |
Lysosomal Enzyme Disorders
Lysosomal Storage Diseases
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Lysosomal Enzyme Disorders
Lysosomal Storage Diseases
|
|---|---|
| prefLabel | Lysosomal Storage Diseases [Disease/Finding]
|
| MESH DEFINITION | Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
|
| MESH DUI | D016464
|
| MESH UI | M0025150
|
| MeSH name | Lysosomal Storage Diseases
|
| type | |
| tui | T047
|
| SNOMED CID | 23585005
|
| notation | N0000003414
|
| Semantic type UMLS property | |
| NUI | N0000003414
|
| cui | C0085078
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |