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

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004171

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000414

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