von Willebrand Disease, Type 2N

Preferred Label : von Willebrand Disease, Type 2N;

NCIt related terms : von Willebrand Disease Normandy Variant;

Alternative definition : NICHD: An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF.;

Details

Origin ID

C131689;

UMLS CUI

C1282975;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 2N [ICD-11 More detail]
- Von willebrand disease, type 2 [OMIM Phenotype]
- von willebrand factor normandy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hereditary von Willebrand disease type 2N (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2N [ORDO Disease]
- von willebrand disease, type 2N [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)
- Hereditary von Willebrand disease type 2N (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2N [ORDO Disease]
- von willebrand disease, type 2N [MeSH concept]
Validated automatic mappings to NTBT
- von willebrand disease, type 2 [MeSH Descriptor]
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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