Preferred Label : Hereditary factor IX deficiency;
ICD-11 definition : A disease caused by a genetically inherited X-linked recessive trait leading to a
defective gene located on the X chromosome. This disease is characterised by low levels
of the protein factor IX in the body leading to increased haemorrhaging and bruising
due to clotting abnormalities. Confirmation is by identification of recessive trait
by genetic testing.;
ICD-11 synonym : hereditary factor IX deficiency disease; congenital factor IX deficiency; congenital factor IX disorder; factor IX deficiency; factor 9 deficiency; intravascular clotting defect;
A disease caused by a genetically inherited X-linked recessive trait leading to a
defective gene located on the X chromosome. This disease is characterised by low levels
of the protein factor IX in the body leading to increased haemorrhaging and bruising
due to clotting abnormalities. Confirmation is by identification of recessive trait
by genetic testing.