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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-4349
http://purl.bioontology.org/ontology/CSP/1849-4349
|
|---|---|
| Preferred Name | hepatolenticular degeneration |
| Definitions |
rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.
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| Synonyms |
Gowers' chorea
cerebral pseudosclerosis
Kinnier-Wilson disease
familial hepatitis
neurohepatic degeneration
hepatocerebral degeneration
Westphal pseudosclerosis
Westphal Strumpell disease
Wilson's disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years. |
|---|---|
| altLabel |
Gowers' chorea
cerebral pseudosclerosis
Kinnier-Wilson disease
familial hepatitis
neurohepatic degeneration
hepatocerebral degeneration
Westphal pseudosclerosis
Westphal Strumpell disease
Wilson's disease
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| prefLabel | hepatolenticular degeneration
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-4349
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| Semantic type UMLS property | |
| DID | 1849-4349
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| cui | C0019202
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| Inverse of RB | |
| subClassOf |
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