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128107007: Hereditary von Willebrand disease type 2 (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
194701018 von Willebrand disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
206397010 Hereditary von Willebrand disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156380016 Hereditary von Willebrand disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
194701018 von Willebrand disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
206397010 Hereditary von Willebrand disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732068011 von Willebrand disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732068011 von Willebrand disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5156380016 Hereditary von Willebrand disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3383951001000114 Von-Willebrand-Syndrom Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
972201000172117 maladie de von Willebrand type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
972201000172117 maladie de von Willebrand type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383951001000114 Von-Willebrand-Syndrom Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary von Willebrand disease type 2 Is a von Willebrand disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Finding site Entire hematological system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Has definitional manifestation Hemostatic system finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary von Willebrand disease type 2 Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary von Willebrand disease type 2 Is a Autosomal hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Is a Hereditary von Willebrand disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary von Willebrand disease type 2N (disorder) Is a True Hereditary von Willebrand disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2A Is a True Hereditary von Willebrand disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2B Is a True Hereditary von Willebrand disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2M (disorder) Is a True Hereditary von Willebrand disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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