1259242002: Hereditary von Willebrand disease (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Functional finding\Disorder of haemostatic system\Blood coagulation disorder\von Willebrand disorder\Hereditary von Willebrand disease
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary von Willebrand disease
• \Disease\Disorder of haemostatic system\Blood coagulation disorder\von Willebrand disorder\Hereditary von Willebrand disease

Status: current, Defined. Date: 30-Nov 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5156368012	Hereditary von Willebrand disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5156369016	Hereditary von Willebrand disease (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5156371016	A rare inherited bleeding disorder with characteristics of defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Caused by mutations in the VWF gene (12p13.3) encoding the multimeric VWF protein. Most often transmitted in an autosomal dominant manner, however, the mode of inheritance is autosomal recessive for type 3 VWD and for some of the type 2 subtypes.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start