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hereditary von Willebrand disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0019565

Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). [ Orphanet:903 ]

Synonyms: vascular pseudohemophilia hereditary von Willebrand disease hereditary von Willebrand disease (hereditary or acquired) von Willebrand-Jrgens disease congenital von willebrand's disease

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:286.4 (DOID:12531)
  • UMLS:C0042974 (Orphanet:903/e)
  • SCTID:234446004 (MONDO:equivalentTo)
  • MESH:C531844 (MONDO:equivalentTo)
  • Orphanet:903 (MONDO:equivalentTo)
  • GARD:7867 (Orphanet:903)
  • DOID:12531 (MONDO:equivalentTo)
  • MedDRA:10047715 (Orphanet:903/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10047715

exactMatch

http://identifiers.org/mesh/C531844

http://identifiers.org/snomedct/234446004

http://www.orpha.net/ORDO/Orphanet_903

http://purl.obolibrary.org/obo/DOID_12531

http://linkedlifedata.com/resource/umls/id/C0042974

has broad synonym

von Willebrand disorder

von Willebrand's-Jurgens' disease

vascular hemophilia

von Willebrand disease

vascular haemophilia

von Willebrand-Jurgens disease

has related synonym

congenital von willebrand disease

von Willebrand's disease

id

MONDO:0019565

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0019565