DESCRIPTION: Phecodes represent one strategy for defining phenotypes for research using EHR data. They are a high-throughput phenotyping tool based on ICD (International Classification of Diseases) codes that can be used to rapidly define the case/control status of thousands of clinically meaningful diseases and conditions.
URL: https://phewascatalog.org/phecodes
CITATION:
Wei, W. Q., Bastarache, L. A., Carroll, R. J., Marlo, J. E., Osterman, T. J., Gamazon, E. R., ... & Denny, J. C. (2017). Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PloS one, 12(7), e0175508.
Wu P, Gifford A, Meng X, Li X, Campbell H, Varley T, Zhao J, Carroll R, Bastarache L, Denny JC, Theodoratou E, Wei W Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation JMIR Med Inform 2019;7(4):e14325 doi: 10.2196/14325
Bastarache, L. (2021). Using Phecodes for research with the electronic health record: from PheWAS to PheRS. Annual Review of Biomedical Data Science, 4, 1-19.