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.\Includes both quantitative and qualitative disorders of procoagulants\...

\Factor VIII deficiency\Hereditary factor VIII deficiency disease

\Hemophilia\Hereditary factor VIII deficiency disease

\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Hereditary factor VIII deficiency disease
\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary factor VIII 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 VIII deficiency\Hereditary factor VIII 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 VIII 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\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carrier of hereditary factor VIII deficiency disease (finding)	Is a	False	Hereditary factor VIII deficiency disease	Inferred relationship	Some
Hereditary factor VIII deficiency disease with inhibitor (disorder)	Is a	True	Hereditary factor VIII deficiency disease	Inferred relationship	Some
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.	Is a	True	Hereditary factor VIII deficiency disease	Inferred relationship	Some
A mild form of haemophilia A characterised by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous haemorrhages do not occur. Patients may be also labelled as having mild haemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with haemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.	Is a	True	Hereditary factor VIII deficiency disease	Inferred relationship	Some
Moderate disease manifests factor VIII activity of 2% to 5% of normal	Is a	True	Hereditary factor VIII deficiency disease	Inferred relationship	Some
Hereditary factor VIII deficiency disease without inhibitor (disorder)	Is a	True	Hereditary factor VIII deficiency disease	Inferred relationship	Some

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
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
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
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
2341871000195117	Klassische Hämophilie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2341881000195115	Hereditäre Faktor-VIII-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2341891000195118	Geschlechtsgebundener Faktor-VIII-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2341901000195117	Kongenitale Faktor-VIII-Mangelerkrankung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2341911000195115	Erbliche Faktor-VIII-Mangelerkrankung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2341921000195113	AHG-Mangelerkrankung	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