Preferred Label : Atransferrinaemia;
ICD-11 definition : Congenital atransferrinaemia is a constitutional anaemia due to abnormal synthesis
of transferrin, a plasma protein that transports iron through the blood. Severe microcytic
hypochromic anaemia, growth retardation and recurrent infections are the first clinical
signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid,
kidney and bone joints, leading to mild to severe symptoms of liver and heart failure,
arthropathy and hypothyroidism.;
Origin ID : 1897167257;
UMLS CUI : C0521802;
CISMeF manual mappings
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Congenital atransferrinaemia is a constitutional anaemia due to abnormal synthesis
of transferrin, a plasma protein that transports iron through the blood. Severe microcytic
hypochromic anaemia, growth retardation and recurrent infections are the first clinical
signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid,
kidney and bone joints, leading to mild to severe symptoms of liver and heart failure,
arthropathy and hypothyroidism.
