Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases

Norbert Maggi, Ariam Boaglio, Carmelina Ruggiero, Roberto Fancellu, Francesco Cocchiara, Domenico Coviello, Deborah Capanna, Mauro Giacomini

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

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.

Original languageEnglish
Title of host publicationApplying the FAIR Principles to Accelerate Health Research in Europe in the Post COVID-19 Era - Proceedings of the 2021 EFMI Special Topic Conference
EditorsJaime Delgado, Arriel Benis, Paula de Toledo, Parisis Gallos, Mauro Giacomini, Alicia Martinez-Garcia, Dario Salvi
PublisherIOS Press BV
Pages114-118
Number of pages5
ISBN (Electronic)9781643682365
DOIs
Publication statusPublished - Nov 18 2021
Event2021 European Federation for Medical Informatics (EFMI) Special Topic Conference, STC 2021 - Virtual, Online, Spain
Duration: Nov 22 2021Nov 24 2021

Publication series

NameStudies in Health Technology and Informatics
Volume287
ISSN (Print)0926-9630
ISSN (Electronic)1879-8365

Conference

Conference2021 European Federation for Medical Informatics (EFMI) Special Topic Conference, STC 2021
Country/TerritorySpain
CityVirtual, Online
Period11/22/2111/24/21

Keywords

  • interoperability
  • standards
  • Undiagnosed Rare Diseases

ASJC Scopus subject areas

  • Biomedical Engineering
  • Health Informatics
  • Health Information Management

Fingerprint

Dive into the research topics of 'Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases'. Together they form a unique fingerprint.

Cite this