Preferred Name |
von Hippel-Lindau Disease |
|
Synonyms |
Cerebelloretinal Angiomatosis, Familial von Hippel-Lindau Syndrome Familial Cerebello-Retinal Angiomatosis Lindau's Disease Lindau Disease Hippel-Lindau Disease |
|
ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001541 |
|
code |
C3260 |
|
Display_Name |
von Hippel-Lindau Disease |
|
label |
von Hippel-Lindau Disease [Disease/Finding] |
|
MeSH_CUI |
M0010373 |
|
MeSH_Definition |
An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. |
|
MeSH_DUI |
D006623 |
|
MeSH_Name |
von Hippel-Lindau Disease |
|
NUI |
N0000001541 |
|
prefixIRI |
N0000001541 |
|
RxNorm_CUI |
1022970 |
|
SNOMED_CID |
46659004 |
|
Synonym |
Cerebelloretinal Angiomatosis, Familial von Hippel-Lindau Syndrome Familial Cerebello-Retinal Angiomatosis Lindau's Disease Lindau Disease Hippel-Lindau Disease |
|
UMLS_CUI |
C0019562 |
|
subClassOf |