von Hippel-Lindau disease

Preferred Label : von Hippel-Lindau disease;

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 synonym : familial cerebelloretinal angiomatosis; familial cerebello-retinal angiomatoses; angiomatoses, familial cerebelloretinal; lindau disease; lindau's diseases; lindau's disease; familial cerebello retinal angiomatosis; hippel lindau disease; cerebelloretinal angiomatoses, familial; cerebello-retinal angiomatosis, familial; hippel-lindau disease; lindaus disease; von hippel-lindau syndrome; familial cerebello-retinal angiomatosis; angiomatoses, familial cerebello-retinal; angiomatosis, familial cerebello-retinal; cerebello-retinal angiomatoses, familial; von hippel lindau syndrome; cerebelloretinal angiomatosis, familial; angiomatosis, familial cerebelloretinal; familial cerebelloretinal angiomatoses; von hippel lindau disease; angiomatosis retinae; VHL syndrome; VHL syndromes;

CISMeF synonym : von Hippel-Lindau's disease; retinae, angiomatosis; syndrome, VHL; syndrome, von hippel-lindau; syndromes, VHL;

Wikipedia link : https://en.wikipedia.org/wiki/Hippel-lindau disease;

Details

Origin ID

D006623;

UMLS CUI

C0019562;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Angiomatosis of retina (disorder) [SNOMED CT concept]
- VHL Gene [NCIt concept]
- Von Hippel-Lindau Disease Tumor Suppressor [NCIt concept]
- Von hippel-lindau tumor suppressor [OMIM gene]
- von Hippel-Lindau tumor suppressor [ORDO Gene]
Currated CISMeF NLP mapping
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Von hippel-lindau syndrome [OMIM Phenotype]
- von Hippel Lindau disease [Disease (Nov.)]
- von Hippel-Lindau disease [DO Concept]
- von hippel-lindau disease [MedlinePlus Topic]
- von hippel-lindau syndrome [SNOMED Notion]
DO Cross reference
- von Hippel-Lindau disease [DO Concept]
Indexing information
- VHL protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Catecholamine-producing tumor [ORDO Disease]
- Familial renal cell carcinoma [ORDO Disease]
- Genetic central nervous system and retinal vascular disease [ORDO Disease]
- Genetic cystic renal disease [ORDO Disease]
- Genetic renal tumor [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Rare central nervous system and retinal vascular disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
MeSH Descriptor(s) used for indexing
- von hippel-lindau tumor suppressor protein [MeSH Descriptor]
MedlinePlus topic(s)
- von hippel-lindau disease [MedlinePlus Topic]
ORDO relation(s)
- Von Hippel-Lindau disease [ORDO Disease]
Record concept(s)
- von Hippel-Lindau disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Von hippel-lindau syndrome [OMIM Phenotype]
- von Hippel Lindau disease [Disease (Nov.)]
- von Hippel-Lindau disease [DO Concept]
- von hippel-lindau disease [MedlinePlus Topic]
- von hippel-lindau syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]

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