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41788008: Hereditary factor IX deficiency disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Blood coagulation disorder\Coagulation factor deficiency syndrome\...

\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease

\Hemophilia\Hereditary factor IX deficiency disease

\Disease\Genetic disease\Hereditary disease\X-linked hereditary disease\Hereditary factor IX deficiency disease
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary factor IX deficiency disease
\Disease\Blood coagulation disorder\Coagulation factor deficiency syndrome\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease
\Disease\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hemophilia\Hereditary factor IX deficiency disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary factor IX deficiency disease	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Congenital disease	true	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Factor IX deficiency (disorder)	true	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Hemophilia	true	Inferred relationship	Some
Hereditary factor IX deficiency disease	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Hereditary factor IX deficiency disease	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Hereditary factor IX deficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
69707012	Hemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
69709010	Hereditary factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
69710017	Christmas disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
69711018	Sex-linked factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
69712013	PTC deficiency disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
493094016	Haemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
493095015	Congenital factor IX deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
2786800010	Hereditary factor IX deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)