" /> Hereditary megaloblastic anaemia due to transcobalamin deficiency - CISMeF





Preferred Label : Hereditary megaloblastic anaemia due to transcobalamin deficiency;

ICD-11 definition : A disease caused by defective intestinal absorption of vitamin B12 due to autosomal recessive genetic mutation. This disease may present with vomiting, poor growth, infections due to hypogammaglobulinemia, or megaloblastic anaemia.;

ICD-11 synonym : transcobalamin II deficiency; Congenital megaloblastic anaemia due to transcobalamin II deficiency; transcobalamin deficiency; TCN2 - [transcobalamin II deficiency];

ICD-11 acronym : TCN2;

ICD-11 inclusion : transcobalamin II deficiency anaemia;

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A disease caused by defective intestinal absorption of vitamin B12 due to autosomal recessive genetic mutation. This disease may present with vomiting, poor growth, infections due to hypogammaglobulinemia, or megaloblastic anaemia.

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30/07/2025


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