Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics

Megan M. Shuey, William W. Stead, Ida Aka, April L. Barnado, Lisa Bastarache, Elly Brokamp, Meredith Campbell, Robert J. Carroll, Jeffrey A. Goldstein, Adam Lewis, Beth A. Malow, Jonathan D. Mosley, Travis Osterman, Dolly A Padovani-Claudio, Andrea Ramirez, Dan M. Roden, Bryce A Schuler, Edward Siew, Jennifer Sucre, Isaac Thomsen et al. (6 additional authors not shown)

Abstract: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.