RDMA: Cost Effective Agent-Driven Rare Disease Mining from Electronic Health Records

ArXi:2507.15867v2 Announce Type: replace-cross Rare diseases affect 1 in 10 Americans yet remain systematically underdocumented in clinical records. ICD-based systems cannot capture their breadth, over 50\% of Orphanet codes lack a direct ICD mapping and only 2.2\% of HPO codes have matching ICD codes, leaving patient populations invisible and delaying diagnosis. Mining unstructured clinical notes offers a direct path forward, but real notes are long, noisy, and abbreviation-dense, and limited annotations make fine-tuning infeasible, demanding approaches that generalize without task-specific.