{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T05:15:01Z","timestamp":1771910101354,"version":"3.50.1"},"reference-count":0,"publisher":"IOS Press","isbn-type":[{"value":"9781643683881","type":"print"},{"value":"9781643683898","type":"electronic"}],"license":[{"start":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T00:00:00Z","timestamp":1684368000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,18]]},"abstract":"<jats:p>The common occurrence of characteristic symptoms can be used to infer diagnoses. The aim of this study is to show how syndrome similarity analysis using given phenotypic profiles can help in the diagnosis of rare diseases. HPO was used to map syndromes and phenotypic profiles. The system architecture described is planned to be implemented in a clinical decision support system for unclear diseases.<\/jats:p>","DOI":"10.3233\/shti230216","type":"book-chapter","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T08:45:43Z","timestamp":1684485943000},"source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis Support for Rare Diseases Using Phenotypic Profiles"],"prefix":"10.3233","author":[{"given":"Richard","family":"Noll","sequence":"first","affiliation":[{"name":"Goethe University Frankfurt, University Hospital Frankfurt, Institute of Medical Informatics, Frankfurt, Germany"}]},{"given":"Jannik","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital Frankfurt, Institute of Medical Informatics, Frankfurt, Germany"}]},{"given":"Michael","family":"Von Wagner","sequence":"additional","affiliation":[{"name":"Department of Medical Information Systems and Digitalization, University Hospital Frankfurt, Frankfurt, Germany"}]},{"given":"Holger","family":"Storf","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital Frankfurt, Institute of Medical Informatics, Frankfurt, Germany"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Caring is Sharing \u2013 Exploiting the Value in Data for Health and Innovation"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI230216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T14:59:41Z","timestamp":1685545181000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI230216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,18]]},"ISBN":["9781643683881","9781643683898"],"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti230216","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,18]]}}}