1259242002: Hereditary von Willebrand disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic 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 hemostatic system\Blood coagulation disorder\von Willebrand disorder\Hereditary von Willebrand disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5156368012	Hereditary von Willebrand disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5156369016	Hereditary von Willebrand disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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