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1259242002: Hereditary von Willebrand disease (disorder)

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
5400386014 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400387017 A rare, inherited bleeding disorder characterised 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5400386014 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400387017 A rare, inherited bleeding disorder characterised 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary von Willebrand disease Is a von Willebrand disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary von Willebrand disease Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner. Is a True Hereditary von Willebrand disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Is a True Hereditary von Willebrand disease Inferred relationship Existential restriction modifier (core metadata concept)
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive. Is a True Hereditary von Willebrand disease Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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