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

Area of Science:

• Biomedical Informatics
• Genomic Research

Background:

• Phecodes are a widely adopted phenotype system derived from International Classification of Diseases (ICD) codes.
• The current phecode version (v1.2) has limitations, particularly for adult common/complex diseases, and lacks granularity in certain domains.

Purpose of the Study:

• To introduce phecodeX, an expanded and restructured version of phecodes.
• To enhance the representation of under-represented disease domains within the phenome.

Main Methods:

• Development of phecodeX, incorporating a revised structure and 1,761 new codes.
• Expansion focused on key areas such as infectious diseases, pregnancy, congenital anomalies, and neonatology.

Main Results:

• PhecodeX provides increased granularity for phenotypes in previously under-represented disease areas.
• The new phecodeX version offers a more comprehensive and robust representation of the medical phenome.

Conclusions:

• PhecodeX addresses limitations of the previous phecode version.
• This expanded system facilitates more robust global discovery research by improving phenome representation.