von Willebrand Disease, Type 2B

Preferred Label : von Willebrand Disease, Type 2B;

Alternative definition : NICHD: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption.;

Details

Origin ID

C131687;

UMLS CUI

C1282971;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 2B [ICD-11 More detail]
- Von willebrand disease, type 2 [OMIM Phenotype]
- von willebrand disease, type 2 [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hereditary von Willebrand disease type 2B (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2B [ORDO Disease]
- von Willebrand disease type 2B (disorder) [SNOMED CT concept]
- von Willebrand disease, type IIB (disorder) [SNOMED CT concept]
- von willebrand disease, type 2B [MeSH concept]
- von willebrand disease, type iib [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary von Willebrand disease type 2B (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2B [ORDO Disease]
- von Willebrand disease type 2B (disorder) [SNOMED CT concept]
- von Willebrand disease, type IIB (disorder) [SNOMED CT concept]
- von willebrand disease, type 2B [MeSH concept]
- von willebrand disease, type iib [SNOMED Notion]
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]

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