234478007: Giant platelet syndrome (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\Giant platelet syndrome

\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome

\Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome

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

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

351312012 Giant platelet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622804015 Giant platelet syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4995901000241112 syndrome des plaquettes géantes 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
Giant platelet syndrome	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Giant platelet syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Giant platelet syndrome	Finding site	Platelet	false	Inferred relationship	Some
Giant platelet syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Giant platelet syndrome	Finding site	Body system structure	false	Inferred relationship	Some
Giant platelet syndrome	Has definitional manifestation	Platelet finding	false	Inferred relationship	Some
Giant platelet syndrome	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Giant platelet syndrome	Finding site	Body system structure	true	Inferred relationship	Some	2
Giant platelet syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Giant platelet syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	Is a	True	Giant platelet syndrome	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.	Is a	True	Giant platelet syndrome	Inferred relationship	Some
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia.	Is a	True	Giant platelet syndrome	Inferred relationship	Some
Bernard Soulier syndrome	Is a	True	Giant platelet syndrome	Inferred relationship	Some
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.	Is a	True	Giant platelet syndrome	Inferred relationship	Some

This concept is not in any reference sets