1336093007: Severe hereditary factor IX 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.\Coagulation factor deficiency syndrome\...

\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.

\Haemophilia\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.
\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\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.
\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\Haemophilia\Hereditary factor IX deficiency disease (disorder)\A factor activity level <1 percent of normal.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A factor activity level <1 percent of normal.	Is a	Hereditary factor IX deficiency disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A factor activity level <1 percent of normal.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A factor activity level <1 percent of normal.	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A factor activity level <1 percent of normal.	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A factor activity level <1 percent of normal.	Severity	Severe	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5363309013	Severe hereditary factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363310015	Severe hereditary factor IX deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363311016	Severe hemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363312011	Severe haemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363373013	A factor activity level <1 percent of normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5363309013	Severe hereditary factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363310015	Severe hereditary factor IX deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363311016	Severe hemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363312011	Severe haemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5363373013	A factor activity level <1 percent of normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core