{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T15:41:51Z","timestamp":1648914111504},"reference-count":0,"publisher":"IOS Press","license":[{"start":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T00:00:00Z","timestamp":1637193600000},"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":[[2021,11,18]]},"abstract":"<jats:p>Undiagnosed rare diseases include diseases with a well-characterised phenotype, diseases with unknown molecular causes or due to non-genetic factors, and pathological condition that cannot be named. Several initiatives have been launched for healthcare of patients with undiagnosed rare diseases. A project for development of medical records with special reference to the HL7 standards is being carried out in Genoa (Italy), taking into account regional and national regulations. The project is based on the integration of functionality related to patient diagnostics, taking into account omic sciences for disease prevention and risk assessment. Considering the evolution of standards, the use of FHIR is being considered in order to increase the elasticity of the system also in view of foreseeable adoption of this standard by the Italian healthcare system.<\/jats:p>","DOI":"10.3233\/shti210827","type":"book-chapter","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T08:58:39Z","timestamp":1637312319000},"source":"Crossref","is-referenced-by-count":0,"title":["Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases"],"prefix":"10.3233","author":[{"given":"Norbert","family":"Maggi","sequence":"first","affiliation":[{"name":"Department of Informatics, Bioengineering, Robotics and Information Systems, University of Genoa, Genoa, Italy"},{"name":"Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariam","family":"Boaglio","sequence":"additional","affiliation":[{"name":"Department of Informatics, Bioengineering, Robotics and Information Systems, University of Genoa, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelina","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Department of Informatics, Bioengineering, Robotics and Information Systems, University of Genoa, Genoa, Italy"},{"name":"Healthropy S.r.l., Savona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Fancellu","sequence":"additional","affiliation":[{"name":"Unit of Neurology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"},{"name":"Clinical Centre for Orphan Diagnosis Patients, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Cocchiara","sequence":"additional","affiliation":[{"name":"Clinical Centre for Orphan Diagnosis Patients, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"},{"name":"Unit of Endocrinology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Coviello","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Capanna","sequence":"additional","affiliation":[{"name":"Comitato i Malati Invisibili, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Giacomini","sequence":"additional","affiliation":[{"name":"Department of Informatics, Bioengineering, Robotics and Information Systems, University of Genoa, Genoa, Italy"},{"name":"Healthropy S.r.l., Savona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Applying the FAIR Principles to Accelerate Health Research in Europe in the Post COVID-19 Era"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI210827","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T08:58:40Z","timestamp":1637312320000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI210827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,18]]},"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti210827","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,18]]}}}