234470000: Platelet membrane defect (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

\Platelet disorder\Inherited platelet disorder\Platelet membrane defect

\Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Platelet membrane defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Platelet membrane defect
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Platelet membrane defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect

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

351303010 Platelet membrane defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622794015 Platelet membrane defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4995741000241113 défaut de membrane plaquettaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Platelet membrane defect	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Platelet membrane defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Platelet membrane defect	Finding site	Platelet	false	Inferred relationship	Some
Platelet membrane defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Platelet membrane defect	Has definitional manifestation	Platelet finding	false	Inferred relationship	Some
Platelet membrane defect	Finding site	Body system structure	false	Inferred relationship	Some
Platelet membrane defect	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Platelet membrane defect	Finding site	Body system structure	true	Inferred relationship	Some	2
Platelet membrane defect	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Platelet membrane defect	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycoprotein Ia defect	Is a	True	Platelet membrane defect	Inferred relationship	Some
Glycoprotein Ib defect	Is a	True	Platelet membrane defect	Inferred relationship	Some
Glanzmann's thrombasthenia	Is a	True	Platelet membrane defect	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).	Is a	True	Platelet membrane defect	Inferred relationship	Some

This concept is not in any reference sets