von Willebrand Disease, Type 1

Preferred Label : von Willebrand Disease, Type 1;

Alternative definition : NICHD: An autosomally inherited (generally dominant) coagulation disorder characterized by quantitative partial deficiency of circulating von Willebrand factor (VWF) which account for 60 to 80% of cases of von Willebrand disease. It is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced from normal plasma levels.;

Details

Origin ID

C131685;

UMLS CUI

C1264039;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 1 [ICD-11 More detail]
- von Willebrand disease, type 1^a^ (disorder) [SNOMED CT concept]
- von Willebrand's disease 1 [DO Concept]
Currated CISMeF NLP mapping
- Hereditary von Willebrand disease type 1 (disorder) [SNOMED CT concept]
- Von Willebrand disease type 1 [ORDO Disease]
- Von willebrand disease, type 1 [OMIM Phenotype]
- von willebrand disease, type 1 [MeSH concept]
- von willebrand disease, type 1 [MeSH Descriptor]
DO Cross reference
- von Willebrand's disease 1 [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital von Willebrand's disease type I (disorder) [SNOMED CT concept]
- Hereditary von Willebrand disease type 1 (disorder) [SNOMED CT concept]
- Von Willebrand disease type 1 [ORDO Disease]
- Von willebrand disease, type 1 [OMIM Phenotype]
- von Willebrand's disease 1 [DO Concept]
- von willebrand disease, type 1 [MeSH Descriptor]
- von willebrand disease, type 1 [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) :

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