359732009: Hereditary von Willebrand disease type 2N (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) characterised by 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.\Hereditary von Willebrand disease type 2N (disorder)
• \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) characterised by 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.\Hereditary von Willebrand disease type 2N (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary von Willebrand disease type 2N (disorder)
• \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) characterised by 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.\Hereditary von Willebrand disease type 2N (disorder)

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
474895016	von Willebrand disease type 2N	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5156384013	Hereditary von Willebrand disease type 2N (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5156385014	Hereditary von Willebrand disease type 2N	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
892871000172111	maladie de von Willebrand type 2N	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444121001000115	Von-Willebrand-Syndrom Typ 2N	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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