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765977002: Bleeding disorder due to glycoprotein VI deficiency (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
      • \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
      • \Platelet disorder\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).
    • \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3660334019 A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3660331010 Bleeding disorder due to glycoprotein VI deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660332015 Bleeding disorder due to glycoprotein VI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660333013 Glycoprotein VI deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660335018 Bleeding disorder platelet-type 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5766961000241118 trouble hémorragique dû à un déficit en glycoprotéine VI fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Finding site Body system structure false Inferred relationship Some 1
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Is a Platelet membrane defect true Inferred relationship Some
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Has interpretation Abnormal false Inferred relationship Some 2
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Interprets Hemostatic function false Inferred relationship Some 2
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Finding site Body system structure true Inferred relationship Some 1
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Has interpretation Abnormal true Inferred relationship Some 2
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Interprets Hemostatic function true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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