Pediatric rheumatology

Development and validation of a multi-institutional electronic juvenile idiopathic arthritis phenotype

Semin Arthritis RheumPublished Diagnostic accuracy study

Authors' conclusion

We 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.

Study context

Population
Subjects with ICD-9 and ICD-10-CM codes for juvenile idiopathic arthritis (JIA) and/or psoriatic juvenile arthropathy, age ≤20 at first eligible encounter, excluding multiple ICD codes for SLE, DM and PM; three sites of the Maternal and Pediatric Precision in Therapeutics Hub253 (3 %) manually reviewed
Participants
8,093 subjects
Comparison
Computable JIA phenotype algorithms with increasing JIA code counts, validated against manual chart review
  • ≥4 code countsn = 5,377
Outcome
PPV of the computable JIA phenotype vs manual chart review
Methodological detailsmulti-institutional, multi-site validation and replication, manual chart review, Each site manually reviewed a subset of charts to validate diagnosis
  • Multi-institutional
  • Multi-site validation and replication
  • Manual chart review
  • Each site manually reviewed a subset of charts to validate diagnosis

Performance

As reported in the abstract

PPV
Test or modelPPV
1 code count0.74
≥4 code counts0.95

PPV

1 code count0.74
≥4 code counts0.95

Original publication

Development and validation of a multi-institutional electronic juvenile idiopathic arthritis phenotype. Semin Arthritis Rheum. Published 16 February 2026. doi:10.1016/j.semarthrit.2026.152952

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