Platelet-Type von Willebrand Disease

Preferred Label : Platelet-Type von Willebrand Disease;

NCIt related terms : Pseudo-von Willebrand Disease;

Alternative definition : NICHD: A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears.;

Details

Origin ID

C131681;

UMLS CUI

C1280798;

Automatic exact mappings (from CISMeF team)
- Pseudo-Von Willebrand disease [ICD-11 More detail]
- platelet-type bleeding disorder 3 [DO Concept]
Currated CISMeF NLP mapping
- Platelet type von Willebrand's disease (disorder) [SNOMED CT concept]
- Pseudo von Willebrand disease (disorder) [SNOMED CT concept]
- Pseudo-von Willebrand disease [ORDO Disease]
- Von Willebrand disease, platelet type [MeSH concept]
- Von willebrand disease, platelet-type [OMIM Phenotype]
- von willebrand disease, platelet type [SNOMED Notion]
- von willebrand disease, platelet type [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platelet type pseudo-von Willebrand disease (disorder) [SNOMED CT concept]
- Platelet type von Willebrand's disease (disorder) [SNOMED CT concept]
- Pseudo von Willebrand disease (disorder) [SNOMED CT concept]
- Pseudo-von Willebrand disease [ORDO Disease]
- Von Willebrand disease, platelet type [MeSH concept]
- Von willebrand disease, platelet-type [OMIM Phenotype]
- von willebrand disease, platelet type [SNOMED Notion]
- von willebrand disease, platelet type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- von Willebrand disorder (disorder) [SNOMED CT 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
- GP1BA Gene [NCIt concept]

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