Next-Generation Phenotyping: Introducing PhecodeX for Enhanced Discovery Research in Medical Phenomics

Summary Phecodes are widely-used and easily adapted phenotypes based on International Classification of Diseases (ICD) codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults. Here we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology- and is a more robust representation of the medical phenome for global use in discovery research. Availability and implementation phecodeX is available at https://github.com/PheWAS/phecodeX . Contact [email protected] Supplementary information Supplemental Tables 1-4, Bastarache_bioRxiv_20220907.pdf WC-1999