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

Abstract

AbstractSummaryPhecodes 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 implementationphecodeX is available athttps://github.com/PheWAS/phecodeX.Contactlisa.bastarache@vumc.orgSupplementary informationSupplemental Tables 1-4, Bastarache_bioRxiv_20220907.pdfWC-1999