359711001: Hereditary von Willebrand disease type 2A (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome.\A rare, inherited bleeding disorder characterized by 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).\A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.\Hereditary von Willebrand disease type 2A
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\A rare, inherited bleeding disorder characterized by 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).\A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.\Hereditary von Willebrand disease type 2A
• \Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome.\A rare, inherited bleeding disorder characterized by 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).\A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.\Hereditary von Willebrand disease type 2A

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
474818018	Hereditary von Willebrand disease type 2A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
733587018	Hereditary von Willebrand disease type 2A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4277811000005110	hereditær von Willebrands sygdom type 2A	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)

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