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128106003: Hereditary von Willebrand disease type 1 (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
194700017 von Willebrand disease type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
206396018 Hereditary von Willebrand disease type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156373018 Hereditary von Willebrand disease type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156372011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
194700017 von Willebrand disease type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
206396018 Hereditary von Willebrand disease type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732067018 von Willebrand disease type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732067018 von Willebrand disease type 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5156373018 Hereditary von Willebrand disease type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5156372011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395091001000117 Von-Willebrand-Syndrom Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883121000172110 maladie de von Willebrand type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883121000172110 maladie de von Willebrand type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395091001000117 Von-Willebrand-Syndrom Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

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