ArticleSeminars in arthritis and rheumatism2026
Development and validation of a multi-institutional electronic juvenile idiopathic arthritis phenotype.
Article in Seminars in arthritis and rheumatism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAscertaining a true cohort of juvenile idiopathic arthritis (JIA) patients using claims and electronic health record (EHR) data is challenging due to clinical complexities. This study aims to develop a computable JIA phenotype using large databases with multi-site validation and replication.
methodsThis multi-institutional study used reporting resources at three sites identified through the Maternal and Pediatric Precision in Therapeutics Hub. Subjects with ICD-9 and ICD-10-CM codes for JIA and/or psoriatic juvenile arthropathy and age ≤20 at first eligible encounter were included with exclusion of subjects with multiple ICD codes for systemic lupus erythematosus, dermatomyositis, and polymyositis. Each site manually reviewed a subset of charts to validate diagnosis. Summary statistics on variations of encounter counts with a JIA diagnosis are reported.
resultsThere were 8093 subjects identified with potential JIA. Manual review of 253 (3 %) subjects provided a positive predictive value (PPV) of 0.74 in an initial cohort of one code count with exclusion criteria. As the number of JIA code counts required for inclusion increased, the number of subjects with JIA identified decreased, and the PPV increased. When using ≥4 code counts for JIA, age ≤20 years old, and excluding other conditions, the PPV was 0.95, with an estimated 5377 subjects.
conclusionWe developed and reproduced a computable and portable phenotype algorithm to identify JIA patients in structured, retrospective data, validated this across multiple institutions, and demonstrated its consistent performance across sites. This approach supports broader adoption in collaborative research networks to enhance the accuracy of JIA studies.
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