128105004: von Willebrand disorder (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.

\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.

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

5156398017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

194699018 von Willebrand disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474294014 Vascular haemophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474295010 Angiohemophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474296011 Pseudohemophilia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

474297019 Vascular hemophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474298012 Pseudohaemophilia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

474299016 Constitutional thrombopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474301011 Factor VIII deficiency with vascular defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

474302016 von Willebrand disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474303014 vWD - von Willebrand's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474304015 von Willebrand disease, platelet type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474305019 von Willebrand's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474306018 von Willebrand-Jurgens disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

474307010 Angiohaemophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

732066010 von Willebrand disorder (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2081541000005111 von Willebrands sygdom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.	true	Inferred relationship	Some
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.	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
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.	Finding site	Body system structure	false	Inferred relationship	Some
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.	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
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.	Interprets	Haemostatic function	true	Inferred relationship	Some	1
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.	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
kongenit von Willebrands sygdom	Is a	False	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.	Inferred relationship	Some
Acquired von Willebrand disease (VWD) is a rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. There are three principle pathogenic mechanisms described which are firstly the presence of autoantibodies (inhibiting or noninhibiting) that form immune complexes with the von Willebrand factor (VWF) leading to rapid clearance of VWF from the circulation. Secondly, absorption of VWF onto malignant cell clones and thirdly the increased proteolysis of high molecular weight VWF multimers under abnormal blood conditions caused by cardiovascular malformations (such as aortic valve stenosis).	Is a	True	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.	Inferred relationship	Some
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	False	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.	Inferred relationship	Some
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.	Is a	False	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.	Inferred relationship	Some
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	False	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.	Inferred relationship	Some
Hereditary von Willebrand disease type 2A	Is a	False	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.	Inferred relationship	Some
Hereditary von Willebrand disease type 2B	Is a	False	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.	Inferred relationship	Some
Hereditary von Willebrand disease type 2M	Is a	False	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.	Inferred relationship	Some
von Willebrands sygdom type 2M	Is a	False	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.	Inferred relationship	Some
Hereditary von Willebrand disease type 2N (disorder)	Is a	False	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.	Inferred relationship	Some
von Willebrands sygdom type 2N	Is a	False	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.	Inferred relationship	Some
Acquired von Willebrand syndrome	Is a	False	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.	Inferred relationship	Some
von Willebrand screening test (procedure)	Has focus	True	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.	Inferred relationship	Some	2
Family history of Von Willebrand disease (situation)	Associated finding	True	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.	Inferred relationship	Some	1
von Willebrand factor below reference range	Is a	False	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.	Inferred relationship	Some
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).	Is a	True	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.	Inferred relationship	Some

Reference Sets