{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:44:49Z","timestamp":1759365889079,"version":"build-2065373602"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100025241","name":"MilliporeSigma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100025241","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Georgia Claire Bowen Foundation"},{"name":"Joyful Heart Fund, and Japan Society for Promotion of Science"},{"name":"Scientific Research","award":["20KK0375"],"award-info":[{"award-number":["20KK0375"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Accurate characterization of patients with congenital heart disease is fundamental to research, outcomes reporting, quality improvement, and clinical decision-making. Here we present an approach to computing the anatomy of patients with congenital heart disease based on the whole of their diagnostic and surgical codes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Materials and Methods<\/jats:title>\n                  <jats:p>All diagnostic and procedure codes for patients cared for between 1981 and 2020 at Boston Children\u2019s Hospital were extracted from a database containing diagnostic codes from echocardiograms, and procedural codes from surgical and catheterization procedures. The pipeline sequentially (1) mapped each of the 7500 native codes to algorithm codes; (2) computed the parent anatomy for each study using a pre-defined hierarchy; (3) computed the parent anatomy for the patient, based on highest ranking parent anatomy; and (4) computed the subcategories and mandatory co-variate findings for each patient. Thereafter, diagnostic accuracy of 500 unseen patients was adjudicated against clinical documentation by clinical experts.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 514\u00a0541 echocardiograms on 161\u00a0735 patients were available for this study. Phenotypes of congenital cardiac diseases were assigned in 84\u00a0285 patients (52%), and the remainder were computed to have normal anatomy. Clinicians agreed with algorithm assignments in 96.4% (482 of 500 patients), with disagreements most often representing definitional differences. An interactive dashboard enabled by the output of this algorithm is presented.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The computation of detailed congenital heart defect phenotypes from raw diagnostic and procedure codes is possible with a high degree of accuracy and efficiency. This framework may enable tools to support interactive outcomes reporting and clinical decision support.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/jamiaopen\/ooaf106","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:36:24Z","timestamp":1759318584000},"source":"Crossref","is-referenced-by-count":0,"title":["Automated phenotyping of congenital heart disease for dynamic patient aggregation and outcome reporting"],"prefix":"10.1093","volume":"8","author":[{"given":"Shuhei","family":"Toba","sequence":"first","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]},{"name":"Department of Thoracic and Cardiovascular Surgery, Mie University Graduate School of Medicine , Mie 514-8507,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor M","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7109-0582","authenticated-orcid":false,"given":"Francesca","family":"Sperotto","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystalle Katte","family":"Carreon","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pathology, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6620-2500","authenticated-orcid":false,"given":"Kwannapas","family":"Saengsin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]},{"name":"Faculty of Medicine, Chiang Mai University , Chiang Mai, 50200,","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Casella","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlon","family":"Delgado","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P","family":"Sanders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]},{"name":"Cardiac Registry, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Dionne","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric N","family":"Feins","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Surgery, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven D","family":"Colan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John E","family":"Mayer","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Surgery, Harvard Medical School , Boston, MA 02115,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6080-8739","authenticated-orcid":false,"given":"John N","family":"Kheir","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital , Boston, MA 02115,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115,","place":["United 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A centers for disease control and prevention-based multisite validation project","volume":"11","author":"Rodriguez","year":"2022","journal-title":"J Am Heart Assoc"},{"key":"2025100107361477700_ooaf106-B10","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1093\/jamia\/ocaa343","article-title":"A high-throughput phenotyping algorithm is portable from adult to pediatric populations","volume":"28","author":"Geva","year":"2021","journal-title":"J Am Med Inform Assoc"},{"key":"2025100107361477700_ooaf106-B11","doi-asserted-by":"crossref","first-page":"299ra122","DOI":"10.1126\/scitranslmed.aab3719","article-title":"A targeted real-time early warning score (TREWScore) for septic shock","volume":"7","author":"Henry","year":"2015","journal-title":"Sci Transl Med"},{"key":"2025100107361477700_ooaf106-B12","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.jpeds.2017.05.037","article-title":"A computable phenotype improves cohort ascertainment in a pediatric pulmonary hypertension registry","volume":"188","author":"Geva","year":"2017","journal-title":"J Pediatr"},{"key":"2025100107361477700_ooaf106-B13","doi-asserted-by":"crossref","first-page":"103122","DOI":"10.1016\/j.jbi.2019.103122","article-title":"Feature extraction for phenotyping from semantic and knowledge resources","volume":"91","author":"Ning","year":"2019","journal-title":"J Biomed Inform"},{"key":"2025100107361477700_ooaf106-B14","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.athoracsur.2021.11.076","article-title":"Reevaluating congenital heart surgery center performance using operative mortality","volume":"114","author":"Normand","year":"2022","journal-title":"Ann Thorac Surg"},{"key":"2025100107361477700_ooaf106-B15","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.athoracsur.2012.08.074","article-title":"Differential case ascertainment in clinical registry versus administrative data and impact on outcomes assessment for pediatric cardiac operations","volume":"95","author":"Pasquali","year":"2013","journal-title":"Ann Thorac Surg"}],"container-title":["JAMIA Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jamiaopen\/article-pdf\/8\/5\/ooaf106\/64460280\/ooaf106.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jamiaopen\/article-pdf\/8\/5\/ooaf106\/64460280\/ooaf106.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:36:27Z","timestamp":1759318587000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jamiaopen\/article\/doi\/10.1093\/jamiaopen\/ooaf106\/8269858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9,2]]}},"URL":"https:\/\/doi.org\/10.1093\/jamiaopen\/ooaf106","relation":{},"ISSN":["2574-2531"],"issn-type":[{"value":"2574-2531","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,9,2]]},"article-number":"ooaf106"}}