45366001: Hereditary dysfibrinogenemia (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.\...

\Fibrinogen abnormality\Congenital fibrinogen abnormality\...

\Dysfibrinogenemia\Hereditary dysfibrinogenemia

\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia

\Coagulation factor deficiency syndrome\Disease that manifests either a quantitative or a qualitative defect of factor I\Dysfibrinogenemia\Hereditary dysfibrinogenemia
\Coagulation factor deficiency syndrome\Disease that manifests either a quantitative or a qualitative defect of factor I\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia

\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital fibrinogen abnormality\Dysfibrinogenemia\Hereditary dysfibrinogenemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital fibrinogen abnormality\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Fibrinogen abnormality\Congenital fibrinogen abnormality\Dysfibrinogenemia\Hereditary dysfibrinogenemia
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Fibrinogen abnormality\Congenital fibrinogen abnormality\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Coagulation factor deficiency syndrome\Disease that manifests either a quantitative or a qualitative defect of factor I\Dysfibrinogenemia\Hereditary dysfibrinogenemia
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Coagulation factor deficiency syndrome\Disease that manifests either a quantitative or a qualitative defect of factor I\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Hereditary factor I deficiency disease\Hereditary dysfibrinogenemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary dysfibrinogenemia	Is a	Dysfibrinogenemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary dysfibrinogenemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Is a	Hereditary factor I deficiency disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary dysfibrinogenemia	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary thrombophilic dysfibrinogenemia (disorder)	Is a	True	Hereditary dysfibrinogenemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
75627010	Congenital dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494185015	Congenital dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2786838014	Hereditary dysfibrinogenemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2792832010	Hereditary dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2795322018	Hereditary dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
75627010	Congenital dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
75627010	Congenital dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494185015	Congenital dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
494185015	Congenital dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
782597019	Congenital dysfibrinogenemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2786838014	Hereditary dysfibrinogenemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2786838014	Hereditary dysfibrinogenemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2792832010	Hereditary dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2792832010	Hereditary dysfibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2795322018	Hereditary dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2795322018	Hereditary dysfibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4538151000241116	dysfibrinogénémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4538151000241116	dysfibrinogénémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module