Medical Subject Headings (MeSH) - von Hippel-Lindau Disease - Terms

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Preferred Name	von Hippel-Lindau Disease
Synonyms	Hippel Lindau Disease Syndrome, von Hippel-Lindau von Hippel Lindau Disease LINDAUS DIS LINDAU DIS HIPPEL LINDAU DIS VON HIPPEL LINDAU DIS Hippel-Lindau Disease Angiomatoses, Familial Cerebello-Retinal Angiomatosis, Familial Cerebello-Retinal Cerebello-Retinal Angiomatoses, Familial Cerebello-Retinal Angiomatosis, Familial Familial Cerebello Retinal Angiomatosis Familial Cerebello-Retinal Angiomatoses Familial Cerebello-Retinal Angiomatosis Angiomatoses, Familial Cerebelloretinal Angiomatosis, Familial Cerebelloretinal Cerebelloretinal Angiomatoses, Familial Cerebelloretinal Angiomatosis, Familial Familial Cerebelloretinal Angiomatoses Familial Cerebelloretinal Angiomatosis Lindau Disease Lindau's Disease Lindaus Disease von Hippel Lindau Syndrome von Hippel-Lindau Syndrome Lindau's Diseases
Definitions	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.
ID	D006623
Full Id	http://purl.bioontology.org/ontology/MSH/D006623
AQL	BL CF CI CL CN CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
CHD	Neurocutaneous Syndromes Angiomatosis
DC	1
DX	19910101
HN	2008 (1975)
MDA	19990101
MMR	20090713
MN	C10.562.925 C14.907.077.925
PM	2008; see HIPPEL-LINDAU DISEASE 1991-2007; see ANGIOMATOSIS 1975-1990
Semantic_Type	Disease or Syndrome
SY	von Hippel-Lindau Disease
SYNONYM DEV	LINDAUS DIS LINDAU DIS HIPPEL LINDAU DIS VON HIPPEL LINDAU DIS
SYNONYM EN	Hippel-Lindau Disease Familial Cerebello-Retinal Angiomatosis Lindau's Disease von Hippel-Lindau Syndrome
SYNONYM EP	Cerebelloretinal Angiomatosis, Familial Lindau Disease
SYNONYM PM	Hippel Lindau Disease Syndrome, von Hippel-Lindau von Hippel Lindau Disease Angiomatoses, Familial Cerebello-Retinal Angiomatosis, Familial Cerebello-Retinal Cerebello-Retinal Angiomatoses, Familial Cerebello-Retinal Angiomatosis, Familial Familial Cerebello Retinal Angiomatosis Familial Cerebello-Retinal Angiomatoses Angiomatoses, Familial Cerebelloretinal Angiomatosis, Familial Cerebelloretinal Cerebelloretinal Angiomatoses, Familial Familial Cerebelloretinal Angiomatoses Familial Cerebelloretinal Angiomatosis Lindaus Disease von Hippel Lindau Syndrome Lindau's Diseases
TERMUI	T372182 T019933 T372181 T372185 T372183 T372184 T019932
TH	ORD (2010) NLM (2000) NLM (1996) NLM (1975)
TUI	T047
UMLS_CUI	C0019562

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://bioonto.de/mesh.owl#D006623	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/PK62.	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10047716	MedDRA	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/193300	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/193300	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/PK62.	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_14175	Neuroscience Information Framework Standard ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_99	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Von_Hippel-Lindau_Syndrome	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T4361	MedlinePlus Health Topics	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_14175	Human disease ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.owl-ontologies.com/NPOntology.owl#DOID_14175	Natural Products Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/PDQ/CDR0000042846	Physician Data Query	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/46659004	SNOMED Clinical Terms	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_14175	NIF Dysfunction	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C10.562.925	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/46659004	SNOMED Clinical Terms	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000001541	National Drug File	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000001541	National Drug File	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C14.907.077.925	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T4361	MedlinePlus Health Topics	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_99	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/5000-0055	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/5000-0055	CRISP Thesaurus, 2006	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/PDQ/CDR0000042846	Physician Data Query	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q85.8	ICD10CM	NLM UMLS (CUI)	CUI: C0019562	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10047716	MedDRA	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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