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hereditary von Willebrand disease

^ 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 ]

Term info

database cross reference
  • GARD:0007867 (MONDO:equivalentTo)
  • MedDRA:10047715 (Orphanet:903/e)
  • ICD9:286.4 (DOID:12531)
  • SCTID:234446004 (MONDO:equivalentTo)
  • Orphanet:903 (MONDO:equivalentTo)
  • MESH:C531844 (MONDO:equivalentTo)
  • UMLS:C0042974 (Orphanet:903/e)
  • DOID:12531 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://identifiers.org/meddra/10047715

definition

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).

exactMatch

http://identifiers.org/mesh/C531844, http://identifiers.org/snomedct/234446004, http://purl.obolibrary.org/obo/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, von Willebrand-Jurgens disease

has exact synonym

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

has related synonym

congenital von willebrand disease, von Willebrand's disease

id

MONDO:0019565