von Willebrand Disease, Type 2M

Preferred Label : von Willebrand Disease, Type 2M;

Alternative definition : NICHD: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium.;

Details

Origin ID

C131688;

UMLS CUI

C1282974;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 2M [ORDO Disease]
- Von Willebrand disease type 2M [ICD-11 More detail]
- Von willebrand disease, type 2 [OMIM Phenotype]
- von Willebrand disease type 2M (disorder) [SNOMED CT concept]
- von willebrand disease, type 2 [MeSH Descriptor]
- von willebrand disease, type 2M [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Von Willebrand disease type 2M [ORDO Disease]
- von Willebrand disease type 2M (disorder) [SNOMED CT concept]
- von willebrand disease, type 2M [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- VWF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients