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128105004: von Willebrand disorder (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
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
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 Only initial character case insensitive (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 Only initial character 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 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 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
474300012 von Willebrand-J?rgens disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
474301011 Factor VIII deficiency with vascular defect en Synonym (core metadata concept) Active Entire term case sensitive (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 Only initial character case insensitive (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 Only initial character 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
2884496019 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
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
384301000274111 Willebrand-Jürgens-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670731000274112 Angiohämophilie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450681001000119 Von-Willebrand-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
159061000172117 maladie de von Willebrand fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
159061000172117 maladie de von Willebrand fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
384301000274111 Willebrand-Jürgens-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670731000274112 Angiohämophilie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450681001000119 Von-Willebrand-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
von Willebrand disorder Is a Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. true Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand disorder Finding site Entire hematological system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand disorder Has definitional manifestation Hemostatic system finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand disorder Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 1
von Willebrand disorder Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
maladie de von Willebrand congénitale Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acquired von Willebrand disease (disorder) Is a True von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Is a False von Willebrand disorder 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 False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2A Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2B Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2M (disorder) Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
maladie de von Willebrand type 2M Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2N (disorder) Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand disease Normandy Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acquired von Willebrand syndrome Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
von Willebrand screening test (procedure) Has focus True von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept) 2
Family history of Von Willebrand disease Associated finding True von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept) 1
von Willebrand factor below reference range Is a False von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease Is a True von Willebrand disorder Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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