Nov 5, 2018

Developing and Evaluating Mappings of ICD-10 and ICD-10-CM Codes to PheCodes

BioRxiv : the Preprint Server for Biology
Patrick WuWei-Qi Wei

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) in the electronic health record (EHR). Objective Here, we present our work on the development and evaluation of maps from ICD-10 and ICD-10-CM codes to PheCodes. 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 Unified Medical Language System (UMLS), Observational Health Data Sciences and Informatics (OHDSI), Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT), and National Library of Medicine (NLM). 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. Results We mapped >75% of ICD-10-CM and ICD-10 codes to PheCodes. Of the unique codes observed in the VUMC (ICD-10-CM) and UKBB (ICD-10) cohorts, >90% were mapped to PheCodes. We observed 70-75% reproduci...Continue Reading

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Mentioned in this Paper

Genome-Wide Association Study
Study
Electronic Health Records
IDH2 wt Allele
Classification
Academic Medical Centers
Culture Media, Conditioned
Chronic Disease
Research Personnel
Unified Medical Language System

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