Phenotype Domain

Hemic and Lymphatic Phenotypes

 

Permanent URI for this domainhttps://hdl.handle.net/20.500.14642/1145

This collection consists of phenotypes for patients with diseases that affect the blood, bone marrow, lymph nodes, and spleen, such as anemias, coagulopathies, leukemias, and lymphomas. These disorders may be inherited or acquired and often involve abnormalities in blood cell production, function, or survival. Phenotype logic may include diagnostic codes, laboratory values (e.g., hemoglobin, platelet count, coagulation studies), transfusion history, bone marrow biopsy results, and use of chemotherapy or biologics. Example phenotypes include “Sickle Cell Disease,” defined by genetic testing, hemoglobin electrophoresis, and clinical events such as vaso-occlusive crises, and “Immune Thrombocytopenia,” which may be identified by low platelet counts in the absence of other causes and immunomodulatory treatment.

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