Phenotype Domain

Neoplasm Phenotypes

 

Permanent URI for this domainhttps://hdl.handle.net/20.500.14642/1149

Neoplasms encompass all abnormal growths of tissue—both benign and malignant—arising in virtually any organ system, including solid tumors and hematologic malignancies. Phenotype logic found in this collection often merges structured diagnosis codes (ICD‑10, SNOMED CT) with pathology reports confirming histology, tumor‐specific biomarkers (e.g., PSA, AFP), imaging findings that characterize lesion size or spread, and procedure codes for biopsies, resections, radiation, or systemic therapies. Staging data (e.g., TNM classification) and oncology medication regimens (chemotherapy, targeted therapy, immunotherapy) can refine case identification or stratify disease severity. Example phenotypes include “Pediatric Acute Lymphoblastic Leukemia,” requiring leukemic diagnostic codes, bone‑marrow biopsy confirmation, and induction‑phase chemotherapy, and “Hormone‑Receptor–Positive Breast Cancer,” identified by malignant breast tumor codes plus pathology‑verified ER/PR positivity and receipt of endocrine therapy.

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