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

ABSTRACT:

Motivation

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.

Results

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

SUBMITTER: Shuey MM 

PROVIDER: S-EPMC10627409 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature