Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome.

Alexandrou, Eirene; Cabrera-Salcedo, Catalina; Labilloy, Guillaume; Tyzinski, Leah; Smolarek, Teresa A; Andrew, Melissa; Huang, Yongbo; Backeljauw, Philippe et al. · J Pediatr · 2020

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Abstract

Early diagnosis of Turner syndrome enhances care, but in routine practice, even within larger referral centers, diagnosis is delayed. Our study examines the utility of an electronic health record algorithm in identifying patients at high risk for Turner syndrome. Six percent of those identified had missed diagnoses of Turner syndrome.

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