783256001: Familial thrombomodulin anomalies (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.
• \Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.
• \Disease\Familial disease\A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408562014	A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408563016	A rare, life-threatening, genetic coagulation disorder characterised by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3758307019	Familial thrombomodulin anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758308012	Familial thrombomodulin anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6228601000241112	anomalies familiales de la thrombomoduline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6228611000241114	anomalies familiales de la TM (thrombomoduline)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420861001000111	Thrombomodulin-Anomalie, genetisch bedingte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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