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128107007: Hereditary von Willebrand disease type 2 (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
194701018 von Willebrand disease type 2 en Synonym Active Case sensitive SNOMED CT core
206397010 Hereditary von Willebrand disease type 2 en Synonym Active Initial character case insensitive SNOMED CT core
5156380016 Hereditary von Willebrand disease type 2 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
5156383019 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. en Definition Active Case sensitive SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
von Willebrand disease type 2N Is a True von Willebrand disease type 2 Inferred relationship Some
Hereditary von Willebrand disease type 2A Is a True von Willebrand disease type 2 Inferred relationship Some
Hereditary von Willebrand disease type 2B Is a True von Willebrand disease type 2 Inferred relationship Some
Hereditary von Willebrand disease type 2M Is a True von Willebrand disease type 2 Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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