von Willebrand's disease 3

Term ID

DOID:0111054

Synonyms

• von Willebrand disease type 3
• von Willebrand disease type III
• VWD type 3
• VWD3

Definition

A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (2)

References

• ICD10CM:D68.03
• MESH:D056729
• NCI:C85213
• OMIM:277480
• ORDO:166096
• SNOMEDCT_US_2023_03_01:128108002
• UMLS_CUI:C1264041

Ontology

Human Disease   ( DOID:0111054 )