Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Hemangioblastoma
Synonyms
Definitions

Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.

ID

http://www.orpha.net/ORDO/Orphanet_252054

definition

Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252054

hasDbXref

MeSH:D018325

UMLS:C0206734

ICD-10:D33.4

ICD-10:D33.7

MedDRA:10018813

label

Hemangioblastoma

notation

ORPHA:252054

part_of

http://www.orpha.net/ORDO/Orphanet_98062

prefixIRI

ORDO:Orphanet_252054

prefLabel

Hemangioblastoma

treeView

http://www.orpha.net/ORDO/Orphanet_98062

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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http://purl.obolibrary.org/obo/DOID_5241 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016748 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1156474009 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemangioblastoma CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C3801 BERO LOOM
http://purl.jp/bio/4/id/200906096945658464 IOBC LOOM
http://purl.obolibrary.org/obo/MONDO_0016748 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016748 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016748 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019385 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_5241 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21058 OCHV LOOM
http://www.radlex.org/RID/RID3995 RADLEX LOOM
http://purl.obolibrary.org/obo/OMIT_0018557 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_5241 CLO LOOM
http://purl.obolibrary.org/obo/DOID_5241 DOID LOOM
http://purl.obolibrary.org/obo/DOID_5241 BAO LOOM
http://purl.obolibrary.org/obo/DOID_5241 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_5241 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_5241 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_5241 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_5241 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D018325 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3801 NCIT LOOM
http://localhost/plosthes.2017-1#10107 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018325 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/81201000 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085550 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNMI/M-91611 SNMI LOOM
http://purl.obolibrary.org/obo/MPATH_238 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_238 UPHENO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206734 OCHV LOOM
rgo:06889 GAMUTS LOOM
http://purl.obolibrary.org/obo/HP_0010797 HP LOOM
http://purl.obolibrary.org/obo/HP_0010797 UPHENO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19719 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.645.375.380.370 RH-MESH LOOM
http://www.gamuts.net/entity#hemangioblastoma GAMUTS REST