The 16th meeting of the e-Health Network took place on 28-29 November 2019 in Brussels. The e-Health Network Strategic Semantic digital strategy is an evolving ecosystem in which the inclusion of rare diseases, especially the codification of diagnoses through ORPHA codes, is highly important. Currently, the rare diseases coding systems that are applied in the European Union, especially in hospitals, are still limited to the International Classification of Diseases system (ICD9 & ICD10) of the World Health Organisation (WHO), with some countries having adopted SNOMED Clinical Terms. However, only a few of the over 6 000 rare diseases are included in such systems, thus a number of rare diseases cases are unrecorded or are wrongly recorded within hospitals.
The 16th meeting of the e-Health Network adopted a framework document on the strategy of semantic standards to be included in the European eHealth strategy, from which the ePatient Summary, shaped for transnational unplanned medical care, and ePrescription, are the main products. Rare diseases were recognised as a particular use case to be taken into account in unplanned care situations, deserving a particular field in ePatient Summaries. This field should include the diagnosis of the rare diseases coded using the ORPHAcodes (Orphanet nomenclature of rare diseases). The Orphanet nomenclature is a standard for rare diseases, for it is comprehensive, standardised, evidence-based, versioned, computable and free. The ePatient Summary, including ORPHA codes, will be therefore put in place in the future to ease electronic health record exchange, and free movement of patients.
During the 16th meeting of the e-Health Network, the Director of Orphanet, Dr. Ana Rath, was invited by the European Commission (EC) co-chair to present the ORPHAcode system, and the way it is being improved in collaboration with ERNs. Discussions on the inclusion of ORPHAcodes have been opened at the European level, through the eHealth Digital Service Infrastructure (eHDSI), and at the national level.
Amongst other discussed topics during the 16th meeting of the e-Health Network were digital health priorities, the use of health data, the European electronic health record exchange format, the open e-health network, patient empowerment and patient access to health data, the current status of eHDSI (eHDSI and eHealth financing mechanisms and eHDSI work plan 2020), and national health strategies.
Concerning the e-Health Network Strategic Semantic in general, topics related to the e-Health Network are such as the digital health strategy, and the European Commission Policy on transformation of health of care in the Digital Single Market for the improvement of the quality of services for patients (for example the e-Prescription), for better health data exchange, research on treatments and medicines, and preventive strategies. Therefore, the European Commission Policy on the transformation of health of care is contributing to empower citizens and to build a healthier society. The e-Health Commission Network is composed of members from all European Commission Member States, and Norway, as an observer. It is chaired by the General Director of DG-Santé, Dr Anne Bucher.
