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TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single\u2010center, underpowered studies. Secondary data analyses utilizing electronic health record (EHR) have the potential to address these limitations; however, an algorithm to accurately identify TS cases in EHR data is needed. We developed a computable phenotype to identify patients with TS using PEDSnet, a pediatric research network. This computable phenotype was validated through chart review; true positives and negatives and false positives and negatives were used to assess accuracy at both primary and external validation sites. The optimal algorithm consisted of the following criteria: female sex, \u22651 outpatient encounter, and \u22653 encounters with a diagnosis code that maps to TS, yielding an average sensitivity of 0.97, specificity of 0.88, and\n                    <jats:italic>C<\/jats:italic>\n                    \u2010statistic of 0.93 across all sites. The accuracy of any estradiol prescriptions yielded an average\n                    <jats:italic>C<\/jats:italic>\n                    \u2010statistic of 0.91 across sites and 0.80 for transdermal and oral formulations separately. PEDSnet and computable phenotyping are powerful tools in providing large, diverse samples to pragmatically study rare pediatric conditions like TS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63495","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T23:33:41Z","timestamp":1702078421000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6458-4282","authenticated-orcid":false,"given":"Sarah D.","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"},{"name":"eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital Colorado  Aurora Colorado USA"},{"name":"Department of Genetics, Human Genetics and Genetic Counseling Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaneeta","family":"Bamba","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Bothwell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia Y.","family":"Fechner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Endocrinology at Seattle Children's Hospital, University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Furniss","sequence":"additional","affiliation":[{"name":"ACCORDS, University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chijioke","family":"Ikomi","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Nahata","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9190-3947","authenticated-orcid":false,"given":"Natalie J.","family":"Nokoff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pyle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"},{"name":"Department of 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.09.023"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31805"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0976-2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajogmf.2022.100844"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2019040365"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000530724"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/amiajnl-2014-002743"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1155\/2023\/9266889"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/lrh2.10243"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27876"},{"key":"e_1_2_9_14_1","volume-title":"R: 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