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PheCode

Definition
AI-generated

PheCode is a hierarchical grouping of ICD diagnosis codes into clinically meaningful phenotypes for electronic health record and biobank research.

Topics
Post-GWAS
Related
International Classification of Diseases Code (ICD) Phenome-Wide Association Study (PheWAS) Phenotype

Why it matters in GWAS

UK Biobank, All of Us, and other EHR-linked resources often expose PheCode-based case definitions; harmonizing with raw ICD rules affects case counts, power, and comparison across studies.

Example usage

"We defined cases using PheCode 250.2 for type 2 diabetes and matched controls on enrollment age."

International Classification of Diseases Code (ICD) Phenome-Wide Association Study (PheWAS) Phenotype Trait
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Bielinski SJ, et al. (2018). High throughput phenotyping with electronic medical record data using a common semi-supervised approach (PheCAP). J Am Med Inform Assoc.
  • Denny JC, et al. (2013). Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol.
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