von Willebrand Disease, Type 2A

Preferred Label : von Willebrand Disease, Type 2A;

Alternative definition : NICHD: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2').;

Details

Origin ID

C131686;

UMLS CUI

C1282968;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 2A [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hereditary von Willebrand disease type 2A (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2A [ORDO Disease]
- Von willebrand disease, type 2 [OMIM Phenotype]
- von Willebrand disease type 2A (disorder) [SNOMED CT concept]
- von Willebrand disease, type IIA (disorder) [SNOMED CT concept]
- von willebrand disease, type 2 [MeSH Descriptor]
- von willebrand disease, type 2A [MeSH concept]
- von willebrand disease, type iia [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 2A (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2A [ORDO Disease]
- von Willebrand disease type 2A (disorder) [SNOMED CT concept]
- von Willebrand disease, type IIA (disorder) [SNOMED CT concept]
- von willebrand disease, type 2A [MeSH concept]
- von willebrand disease, type iia [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]

Keyword's position in hierarchy(ies) :

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