28293008: Hereditary factor VIII 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 VIII deficiency\Hemophilia A

\Haemophilia\Hemophilia A

\Hereditary coagulation factor deficiency\Hemophilia A

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Hemophilia A
\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hemophilia A
\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 VIII deficiency\Hemophilia A
\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\Hemophilia A
\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\Hemophilia A

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
Hemophilia A	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Is a	Haemophilia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Is a	Hereditary coagulation factor deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Is a	Factor VIII deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemophilia A	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemophilia A carrier (disorder)	Is a	False	Hemophilia A	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor VIII deficiency disease with inhibitor	Is a	True	Hemophilia A	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe hereditary factor VIII deficiency disease (disorder)	Is a	True	Hemophilia A	Inferred relationship	Existential restriction modifier (core metadata concept)
Mild haemophilia A	Is a	True	Hemophilia A	Inferred relationship	Existential restriction modifier (core metadata concept)
Moderate hereditary factor VIII deficiency disease (disorder)	Is a	True	Hemophilia A	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor VIII deficiency disease without inhibitor	Is a	True	Hemophilia A	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
47356012	Hemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47359017	Hereditary factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47360010	Classical hemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
47361014	AHG deficiency disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
47362019	Sex-linked factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47363012	Congenital factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483814018	Haemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483815017	Classical haemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1225870016	Congenital factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2787090010	Hereditary factor VIII deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47356012	Hemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47359017	Hereditary factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47360010	Classical hemophilia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47360010	Classical hemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
47361014	AHG deficiency disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
47362019	Sex-linked factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47363012	Congenital factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483814018	Haemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483815017	Classical haemophilia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483815017	Classical haemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758956015	Hemophilia A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1225870016	Congenital factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2787090010	Hereditary factor VIII deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
938371000195112	emofilia A	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938381000195114	carenza del fattore ereditario VIII	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898371000195111	Hereditärer Faktor-8-Mangel,	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898381000195113	Hereditärer Faktor-VIII-Mangel	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898391000195110	Vererbtes Faktor-VIII-Defizit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416251001000119	Hämophilie A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100331000172111	hémophilie A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
576561000172110	carence héréditaire en facteur VIII	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100331000172111	hémophilie A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
576561000172110	carence héréditaire en facteur VIII	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938371000195112	emofilia A	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938381000195114	carenza del fattore ereditario VIII	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898371000195111	Hereditärer Faktor-8-Mangel,	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898381000195113	Hereditärer Faktor-VIII-Mangel	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898391000195110	Vererbtes Faktor-VIII-Defizit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416251001000119	Hämophilie A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module