720521008: Autosomal dominant macrothrombocytopenia (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\...
• \Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Platelet disorder (disorder)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Platelet disorder (disorder)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Platelet disorder (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Platelet disorder (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...
• \Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Functional finding\Disorder of hemostatic system\Platelet disorder (disorder)\...
• \Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321123013	This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402393019	A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402394013	A rare isolated constitutional thrombocytopenia characterised by abnormally large platelets.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321121010	Autosomal dominant macrothrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321122015	Autosomal dominant macrothrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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