| Title: | Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation |
| Journal: | JMIR Medical Informatics |
| Published: | 29 Nov 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/31553307/ |
| DOI: | https://doi.org/10.2196/14325 |
| Citations: | 376 (162 in last 2 years) as of 8 Aug 2024 |
Publication 7507
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Abstract
BACKGROUND: The phecode system was built upon the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association studies (PheWAS) using the electronic health record (EHR).</p>
OBJECTIVE: The goal of this paper was to develop and perform an initial evaluation of maps from the International Classification of Diseases, 10th Revision (ICD-10) and the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) codes to phecodes.</p>
METHODS: We mapped ICD-10 and ICD-10-CM codes to phecodes using a number of methods and resources, such as concept relationships and explicit mappings from the Centers for Medicare & Medicaid Services, the Unified Medical Language System, Observational Health Data Sciences and Informatics, Systematized Nomenclature of Medicine-Clinical Terms, and the National Library of Medicine. We assessed the coverage of the maps in two databases: Vanderbilt University Medical Center (VUMC) using ICD-10-CM and the UK Biobank (UKBB) using ICD-10. We assessed the fidelity of the ICD-10-CM map in comparison to the gold-standard ICD-9-CM phecode map by investigating phenotype reproducibility and conducting a PheWAS.</p>
RESULTS: We mapped >75% of ICD-10 and ICD-10-CM codes to phecodes. Of the unique codes observed in the UKBB (ICD-10) and VUMC (ICD-10-CM) cohorts, >90% were mapped to phecodes. We observed 70-75% reproducibility for chronic diseases and <10% for an acute disease for phenotypes sourced from the ICD-10-CM phecode map. Using the ICD-9-CM and ICD-10-CM maps, we conducted a PheWAS with a Lipoprotein(a) genetic variant, rs10455872, which replicated two known genotype-phenotype associations with similar effect sizes: coronary atherosclerosis (ICD-9-CM: P<.001; odds ratio (OR) 1.60 [95% CI 1.43-1.80] vs ICD-10-CM: P<.001; OR 1.60 [95% CI 1.43-1.80]) and chronic ischemic heart disease (ICD-9-CM: P<.001; OR 1.56 [95% CI 1.35-1.79] vs ICD-10-CM: P<.001; OR 1.47 [95% CI 1.22-1.77]).</p>
CONCLUSIONS: This study introduces the beta versions of ICD-10 and ICD-10-CM to phecode maps that enable researchers to leverage accumulated ICD-10 and ICD-10-CM data for PheWAS in the EHR.</p>
12 Authors
- Patrick Wu
- Aliya Gifford
- Xiangrui Meng
- Xue Li
- Harry Campbell
- Tim Varley
- Juan Zhao
- Robert Carroll
- Lisa Bastarache
- Joshua C Denny
- Evropi Theodoratou
- Wei-Qi Wei
1 Application
| Application ID | Title |
|---|---|
| 10775 | Phenome-wide association study (PheWAS) for the investigation of the associations between serum vitamin D levels and multiple health outcomes |
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