31925001: Hereditary factor I deficiency disease (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\Hereditary factor I deficiency disease

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

\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary factor I deficiency disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary factor I deficiency disease
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital fibrinogen abnormality\Hereditary factor I deficiency disease
\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
\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
\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

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 factor I deficiency disease	Is a	Hereditary coagulation factor deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	Congenital fibrinogen abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	Factor XIII deficiency disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary factor I deficiency disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	Hereditary coagulation factor deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary factor I deficiency disease	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary factor I deficiency disease	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	Disease that manifests either a quantitative or a qualitative defect of factor I	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypofibrinogenemia (disorder)	Is a	True	Hereditary factor I deficiency disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary dysfibrinogenemia	Is a	True	Hereditary factor I deficiency disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital afibrinogenemia (disorder)	Is a	True	Hereditary factor I deficiency disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypodysfibrinogenemia	Is a	True	Hereditary factor I deficiency disease	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
53348015	Hereditary factor I deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
53350011	Hereditary hypofibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485080016	Hereditary hypofibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763149014	Hereditary factor I deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438375014	Congenital fibrinogen deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
53348015	Hereditary factor I deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
53350011	Hereditary hypofibrinogenemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
53350011	Hereditary hypofibrinogenemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
53351010	Congenital hypofibrinogenemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
53352015	Congenital afibrinogenemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
485078010	Congenital afibrinogenaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
485079019	Congenital hypofibrinogenaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
485080016	Hereditary hypofibrinogenaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
485080016	Hereditary hypofibrinogenaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763149014	Hereditary factor I deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438375014	Congenital fibrinogen deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3417321001000118	Fibrinogen-Mangel, kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4493221000241110	maladie causée par un déficit héréditaire en facteur I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4493221000241110	maladie causée par un déficit héréditaire en facteur I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417321001000118	Fibrinogen-Mangel, kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module