" /> Shwachman-Diamond syndrome - CISMeF





Preferred Label : Shwachman-Diamond syndrome;

ICD-11 definition : Shwachman-Diamond syndrome is defined by the association of a central hematological defect (neutropenia, thrombocytopenia and anemia that may progress to bone marrow aplasia), with a malformation syndrome and lipomatosis of the pancreas resulting in external pancreatic insufficiency.;

ICD-11 synonym : Congenital lipomatosis of pancreas;

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Shwachman-Diamond syndrome is defined by the association of a central hematological defect (neutropenia, thrombocytopenia and anemia that may progress to bone marrow aplasia), with a malformation syndrome and lipomatosis of the pancreas resulting in external pancreatic insufficiency.

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29/07/2025


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