41788008: 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

\Hemophilia\Hereditary factor IX deficiency disease

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Hereditary factor IX deficiency disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary factor IX deficiency disease
\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
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

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	Hemophilia	true	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	Hereditary coagulation factor deficiency	false	Inferred relationship	Some
Hereditary factor IX deficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	1
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	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Hereditary factor IX deficiency disease	Interprets	Hemostatic function	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital factor IX deficiency variant	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Congenital factor IX deficiency with inhibitor	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Acquired factor IX deficiency disease	Is a	False	Hereditary factor IX deficiency disease	Inferred relationship	Some
Congenital factor IX deficiency without inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Hereditary factor IX deficiency disease without inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Hereditary factor IX deficiency disease with inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
A factor activity level of >5 percent of normal and <40 percent of normal.	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
A factor activity level ≥1 percent of normal and ≤5 percent of normal.	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
A factor activity level <1 percent of normal.	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Hemophilia B Leyden (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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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)	SNOMED CT core
69709010	Hereditary factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
69710017	Christmas disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
69711018	Sex-linked factor IX deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
69712013	PTC deficiency disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
493094016	Haemophilia B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
493095015	Congenital factor IX deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2786800010	Hereditary factor IX deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1830051000195113	emofilia B	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1830061000195111	carenza del fattore ereditario IX	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6918641000241117	déficit héréditaire en facteur IX	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6918651000241119	maladie causée par un déficit héréditaire en facteur IX	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
869581000195111	Vererbtes Faktor-IX-Defizit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
869591000195113	Hereditärer Faktor-IX-Mangel	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
869601000195115	Hereditärer Faktor-9-Mangel	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303061000195111	Erbliche Faktor-IX-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303071000195117	PTC-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303081000195115	Kongenitaler Faktor-IX-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303091000195118	Hereditäre Faktor-IX-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303101000195113	Geschlechtsgebundene Faktor-IX-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2303111000195110	Weihnachtskrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390731001000114	Hämophilie B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module