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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002044
http://purl.bioontology.org/ontology/NDFRT/N0000002044
|
|---|---|
| Preferred Name | Mucopolysaccharidoses [Disease/Finding] |
| Synonyms |
Mucopolysaccharidoses
Mucopolysaccharidosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Mucopolysaccharidoses
Mucopolysaccharidosis
|
|---|---|
| prefLabel | Mucopolysaccharidoses [Disease/Finding]
|
| MESH DEFINITION | Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
|
| MESH DUI | D009083
|
| MESH UI | M0014167
|
| MeSH name | Mucopolysaccharidoses
|
| type | |
| tui | T047
|
| SNOMED CID | 11380006
|
| notation | N0000002044
|
| Semantic type UMLS property | |
| NUI | N0000002044
|
| cui | C0026703
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |