Beyond Phecodes: leveraging PheMAP to identify patients lacking diagnosis codes in electronic health records.

doi:10.1093/jamia/ocaf055

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Article

Beyond Phecodes: leveraging PheMAP to identify patients lacking diagnosis codes in electronic health records.

Journal of the American Medical Informatics Association : JAMIA - 1 Jun 2025

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

Abstract excerpt

OBJECTIVE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40156924
DOI: 10.1093/jamia/ocaf055
PMCID: PMC12089765

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PubMed metadata and Literature Corpus relationships.