@文章{信息:doi/10.2196/14325，作者=“Wu, Patrick和Gifford, Aliya和Meng, Xiangrui和Li, Xue和Campbell, Harry和Varley, Tim和Zhao, Juan和Carroll, Robert和Bastarache, Lisa和Denny, Joshua C和Theodoratou, Evropi和Wei, Wei- qi”，标题=“将ICD-10和ICD-10- cm代码映射到Phecodes:工作流开发和初步评估”，期刊=“JMIR Med Inform”，年=“2019”，月=“11”，日=“29”，卷=“7”，数=“4”，页=“e14325”，关键词=“电子健康记录”;全基因组关联研究;全现象关联研究;表型出现;医学信息学应用;背景:该代码系统是建立在国际疾病分类，第九次修订，临床修改(ICD-9-CM)的基础上的，用于使用电子健康记录(EHR)进行全现象关联研究(PheWAS)。目的:对《国际疾病分类第十次修订版》(ICD-10)和《国际疾病分类第十次修订版临床修改》(ICD-10- cm)编码的图谱进行初步评价。方法:我们使用多种方法和资源将ICD-10和ICD-10- cm代码映射为代码，例如来自医疗保险医疗补助服务中心、统一医学语言系统、观察健康数据科学和信息学、系统化医学临床术语命名法和国家医学图书馆的概念关系和显式映射。我们在两个数据库中评估了地图的覆盖率:范德比尔特大学医学中心(VUMC)使用ICD-10- cm和英国生物银行(UKBB)使用ICD-10。通过研究表型可重复性并进行PheWAS，我们评估了ICD-10-CM图谱与金标准ICD-9-CM图谱的保真度。 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]). 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. ", issn="2291-9694", doi="10.2196/14325", url="http://medinform.www.mybigtv.com/2019/4/e14325/", url="https://doi.org/10.2196/14325", url="http://www.ncbi.nlm.nih.gov/pubmed/31553307" }