" /> Chédiak-Higashi syndrome - CISMeF





Preferred Label : Chédiak-Higashi syndrome;

ICD-11 definition : This syndrome is caused by mutations in the LYST gene. It consists of partial OCA, immunodeficiency, mild bleeding tendency and lymphoproliferative infiltration of bone marrow and reticuloendothelial system.;

ICD-11 synonym : Chediak-Higashi-Steinbrinck syndrome; Steinbrinck anomaly; Béguez César syndrome; Chediak-Steinbrinck syndrome;

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This syndrome is caused by mutations in the LYST gene. It consists of partial OCA, immunodeficiency, mild bleeding tendency and lymphoproliferative infiltration of bone marrow and reticuloendothelial system.

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30/07/2025


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