773422002: East Texas bleeding disorder (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 genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder.\East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder.\East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.
• \Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder.\East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5405256018	East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405257010	East Texas bleeding disorder is a rare, genetic, coagulation disorder characterised by easy bruising (without haemarthrosis or spontaneous haematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723494017	East Texas bleeding disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723495016	East Texas bleeding disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
972781000172117	maladie hémorragique de l'est du Texas	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996541000172113	coagulopathie de l'est du Texas	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388791001000114	Gerinnungsstörung vom Ost-Texanischen Typ	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)

Back to Start