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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001849
http://purl.bioontology.org/ontology/NDFRT/N0000001849
|
|---|---|
| Preferred Name | Mucopolysaccharidosis I [Disease/Finding] |
| Synonyms |
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis Type I
Mucopolysaccharidosis I
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis Type I
Mucopolysaccharidosis I
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|---|---|
| prefLabel | Mucopolysaccharidosis I [Disease/Finding]
|
| MESH DEFINITION | Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
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| MESH DUI | D008059
|
| MESH UI | M0012558
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| MeSH name | Mucopolysaccharidosis I
|
| type | |
| tui | T047
|
| SNOMED CID | 75610003
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| May be treated by | |
| notation | N0000001849
|
| Semantic type UMLS property | |
| NUI | N0000001849
|
| cui | C0023786
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |