Catalog

Shwachman-Diamond syndrome

No MMS code

Link to WHO Definition

Shwachman-Diamond syndrome – http://id.who.int/icd/entity/232885463

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