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lichte hereditaire stollingsfactor VIII-deficiëntieziekte (aandoening)
lichte hereditaire stollingsfactor VIII-deficiëntieziekte
lichte hemofilie A
lichte genetische factor VIII-deficiëntieziekte
lichte erfelijke factor VIII-deficiëntieziekte
lichte hereditaire factor VIII-deficiëntieziekte
Mild hereditary factor VIII deficiency disease
Mild hemophilia A
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.
Id26029002
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
SNOMED CT to Orphanet simple map169808
SNOMED CT to ICD-10 extended map
TargetD66
RuleTRUE
AdviceALWAYS D66
CorrelationSNOMED CT source code to target map code correlation not specified
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