1336091009: Mild 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.\Includes both quantitative and qualitative disorders of procoagulants\...

\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 percent of normal.

\Hemophilia\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 percent of normal.

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 percent of normal.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 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.\Includes both quantitative and qualitative disorders of procoagulants\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 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.\Includes both quantitative and qualitative disorders of procoagulants\Hemophilia\Hereditary factor IX deficiency disease\A factor activity level of >5 percent of normal and <40 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:

Id Description Lang Type Status Case? Module

5363368019 A factor activity level of >5 percent of normal and <40 percent of normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5363301011 Mild hereditary factor IX deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5363302016 Mild hemophilia B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5363303014 Mild haemophilia B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5363304015 Mild hereditary factor IX deficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A factor activity level of >5 percent of normal and <40 percent of normal.	Is a	Hereditary factor IX deficiency disease	true	Inferred relationship	Some
A factor activity level of >5 percent of normal and <40 percent of normal.	Occurrence	Congenital	true	Inferred relationship	Some	3
A factor activity level of >5 percent of normal and <40 percent of normal.	Interprets	Hemostatic function	true	Inferred relationship	Some	1
A factor activity level of >5 percent of normal and <40 percent of normal.	Has interpretation	Abnormal	true	Inferred relationship	Some	1
A factor activity level of >5 percent of normal and <40 percent of normal.	Severity	Mild	true	Inferred relationship	Some	2

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set