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359717002: Hereditary von Willebrand disease type 2B (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
474846016 Hereditary von Willebrand disease type 2B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
733815010 Hereditary von Willebrand disease type 2B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4226591000005118 hereditær von Willebrands sygdom type 2B da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary von Willebrand disease type 2B Is a 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. false Inferred relationship Some
Hereditary von Willebrand disease type 2B Finding site Entire hematological system (body structure) false Inferred relationship Some
Hereditary von Willebrand disease type 2B Finding site Body system structure false Inferred relationship Some
Hereditary von Willebrand disease type 2B Has definitional manifestation Hemostatic system finding false Inferred relationship Some
Hereditary von Willebrand disease type 2B Interprets Haemostatic function true Inferred relationship Some 1
Hereditary von Willebrand disease type 2B Has interpretation Abnormal true Inferred relationship Some 1
Hereditary von Willebrand disease type 2B Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary von Willebrand disease type 2B Is a 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. true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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