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Article

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

PloS one - 1 Jan 2017

Wei Wei-Qi, Bastarache Lisa A, Carroll Robert J, Marlo Joy E, Osterman Travis J, Gamazon Eric R, Cox Nancy J, Roden Dan M, Denny Joshua C

Abstract excerpt

OBJECTIVE: To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate known genetic associations. The three tested coding systems were the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes, the Agency for Healthcare Research and Quality Clinical Classification Software...

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Identifiers

PMID: 28686612
DOI: 10.1371/journal.pone.0175508
PMCID: PMC5501393

Genes

CCS
PEPD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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