26029002: Mild 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\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.

\Hemophilia\Hereditary factor VIII deficiency disease\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.

\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease\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.

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5449358013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5449359017 A mild form of hemophilia A characterized 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 hemorrhages do not occur. Patients may be also labeled as having mild hemophilia 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 hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

43600019 Mild hemophilia A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

483093012 Mild haemophilia A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2787929017 Mild hereditary factor VIII deficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2792392016 Mild hereditary factor VIII deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6495231000241118 déficit héréditaire léger en facteur VIII de la coagulation fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6495251000241114 hémophilie A légère fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6495271000241116 déficit héréditaire léger en facteur antihémophilique A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3420811001000113 Hämophilie A, milde de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Hereditary factor VIII deficiency disease	true	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.	Finding site	Entire hematological system (body structure)	false	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.	Severity	Mild	false	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.	Finding site	Body system structure	false	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.	Has definitional manifestation	Hemostatic system finding	false	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.	Interprets	Hemostatic function	true	Inferred relationship	Some	1
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.	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mild hereditary factor VIII deficiency disease with inhibitor (disorder)	Is a	True	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.	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5449358013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449359017	A mild form of hemophilia A characterized 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 hemorrhages do not occur. Patients may be also labeled as having mild hemophilia 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 hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
43600019	Mild hemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483093012	Mild haemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2787929017	Mild hereditary factor VIII deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2792392016	Mild hereditary factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6495231000241118	déficit héréditaire léger en facteur VIII de la coagulation	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6495251000241114	hémophilie A légère	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6495271000241116	déficit héréditaire léger en facteur antihémophilique A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420811001000113	Hämophilie A, milde	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module