Beyond Phecodes: leveraging PheMAP to identify patients lacking diagnosis codes in electronic health records.
Diagnosis codes documented in electronic health records (EHR) are often relied upon to clinically phenotype patients for biomedical research. However, these diagnoses can be incomplete and inaccurate, leading to false negatives when searching for patients with phenotypes of interest. This study aims to determine whether PheMAP, a comprehensive knowledgebase integrating multiple clinical terminologies beyond diagnosis to capture phenotypes, can effectively identify patients lacking relevant EHR diagnosis codes.
Author(s): Yan, Chao, Grabowska, Monika E, Thakkar, Rut, Dickson, Alyson L, Embí, Peter J, Feng, QiPing, Denny, Joshua C, Kerchberger, Vern Eric, Malin, Bradley A, Wei, Wei-Qi
DOI: 10.1093/jamia/ocaf055