Article

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes

2025-05-06

Abstract excerpt

<h4>Background</h4> Identifying rare disease (RD) patients in electronic health records (EHR) is challenging, as more than 10,000 rare diseases are not typically captured by clinical coding systems. This limits the assessment of clinical outcomes for RD patients. This study introduces a semiautomated approach to map RDs to appropriate codes, that is applicable across various EHR systems. By improving RD patient i...

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Literature Corpus work: 86a26e45-b014-5e0f-bf18-84723647ca61
DOI: 10.1101/2025.05.02.25325348

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