25gmds110 10.3205/25gmds110 urn:nbn:de:0183-25gmds1102 Meeting Abstract Vorisek Vorisek Carina Nina CN

Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany

author Hölter Hölter Thimo T

Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany

author Saß Saß Julian J

Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany

author Shutsko Shutsko Aliaksandra A

ZB MED – Information Centre for Life Sciences, Köln, Germany

author Kasbohm Kasbohm Elisa E

University Medicine Greifswald, Greifswald, Germany

author Golebiewski Golebiewski Martin M

Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany

author Schmidt Schmidt Carsten Oliver CO

University Medicine Greifswald, Greifswald, Germany

author Thun Thun Sylvia S

Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany

author Klopfenstein Klopfenstein Sophie S

Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany

author German Medical Science GMS Publishing House

Düsseldorf

610 HL7 FHIR metadata FAIR principles interoperability 20251103 engl This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). M0631 110 Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie 70. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS) PS 2: Interoperability and standards Jena 20250907 20250911 Abstr. 288 TextIntroduction: With the growing volume of data generated in clinical, epidemiological, and public health research, the application of the FAIR principles is essential to ensure that data can be found, exchanged, and reused across institutions and systems. However, metadata often lacks structural consistency and semantic standardization, impeding interoperability and secondary use. Metadata, in this context, refers to data about data – that is, structured descriptors that define key properties of studies, documents, questionnaires, and registries, such as design, objectives, population, data collection instruments and provenance. The German National Research Data Infrastructure for Personal Health Data (NFDI4Health) addresses this challenge by developing a modular Metadata Schema (MDS) that supports syntactic and semantic harmonization of metadata describing these research resources.Methods: All elements of NFDI4Health MDS version 3.3.1 were systematically analyzed with regard to structure, terminology requirements, and compatibility with international standards. Standard terminologies such as SNOMED CT, LOINC, ICD, UCUM, and the NCI Thesaurus were used for semantic annotation. Where no suitable terms existed, local CodeSystems were defined. The schema was operationalized using HL7 FHIR R4, developed with the FHIR Shorthand (FSH) compiler SUSHI and validated with the gematik codfsh validator. Profiles were created for key resource types including ResearchStudy, Questionnaire, DocumentReference, Library, and Composition. All artifacts were published as a FHIR Implementation Guide via GitHub and Simplifier.Results: The resulting Implementation Guide includes 19 FHIR profiles, 67 ValueSets, and 51 extensions. It provides a reusable framework for representing structured metadata across various study types. The Composition resource was adapted to reference other resources depending on the context. Conditional cardinalities were used to express logical dependencies between metadata elements. Use-case-specific modules such as nutritional epidemiology and chronic diseases were implemented within the Composition structure.Discussion: The framework enables standardized, interoperable metadata representation for health research, but several limitations were identified. These include the extensive use of extensions, gaps in terminology coverage, and technical constraints of FHIR R4. The metadata schema aims to support interoperability by providing a structured, machine-readable foundation for health research descriptions. While EHDS alignment is not yet part of this release, it is planned for Phase II of the project.Conclusion: The NFDI4Health FHIR-based metadata framework offers a scalable, standards-compliant approach to metadata representation in health research. The openly available Implementation Guide supports harmonization and fosters interoperability. Further refinement in collaboration with the NFDI4Health community and alignment with European initiatives are planned.The authors declare that they have no competing interests.The authors declare that an ethics committee vote is not required. Wilkinson MD Dumontier M Aalbersberg IjJ Appleton G Axton M Baak A The FAIR Guiding Principles for scientific data management and stewardship 2016 Sci Data 160018 Wilkinson MD, Dumontier M, Aalbersberg IjJ, Appleton G, Axton M, Baak A, et al. The FAIR Guiding Principles for scientific data management and stewardship. Sci Data. 2016 Mar 15;3:160018. Abaza H Shutsko A Golebiewski M 2023 The NFDI4Health Metadata Schema (V3_3) Abaza H, Shutsko A, Golebiewski M, et al. The NFDI4Health Metadata Schema (V3_3). Zenodo; 2023. DOI: 10.4126/FRL01-006472531 https://doi.org/10.4126/FRL01-006472531 Abaza H Shutsko A Klopfenstein SAI Vorisek CN Schmidt CO Brünings-Kuppe C Clemens V Darms J Hanß S Intemann T Jannasch F Kasbohm E Lindstädt B Löbe M Nimptsch K Nöthlings U Ocanto MG Osei TB Perrar I Peters M Pischon T Sax U Schulze MB Schwarz F Schwedhelm C Thun S Waltemath D Wünsche H Zeleke AA Müller W Golebiewski M Towards a Domain-Overarching Metadata Schema for Making Health Research Studies FAIR: The NFDI4Health Metadata Schema 2025 JMIR Medical Informatics e63906 Abaza H, Shutsko A, Klopfenstein SAI, Vorisek CN, Schmidt CO, Brünings-Kuppe C, Clemens V, Darms J, Hanß S, Intemann T, Jannasch F, Kasbohm E, Lindstädt B, Löbe M, Nimptsch K, Nöthlings U, Ocanto MG, Osei TB, Perrar I, Peters M, Pischon T, Sax U, Schulze MB, Schwarz F, Schwedhelm C, Thun S, Waltemath D, Wünsche H, Zeleke AA, Müller W, Golebiewski M. Towards a Domain-Overarching Metadata Schema for Making Health Research Studies FAIR: The NFDI4Health Metadata Schema. JMIR Medical Informatics. 2025;13:e63906. DOI: 10.2196/63906 http://dx.doi.org/10.2196/63906 Klopfenstein SAI Vorisek CN Shutsko A Lehne M Sass J Löbe M Fast Healthcare Interoperability Resources (FHIR) in a FAIR Metadata Registry for COVID-19 Research 2021 Stud Health Technol Inform 73–7 Klopfenstein SAI, Vorisek CN, Shutsko A, Lehne M, Sass J, Löbe M, et al. Fast Healthcare Interoperability Resources (FHIR) in a FAIR Metadata Registry for COVID-19 Research. Stud Health Technol Inform. 2021 Nov 18;287:73–7. Anonym NFDI4Health Metadata Schema NFDI4Health Metadata Schema. Firely SIMPLIFIER.NET; [cited 2025 Apr 24]. Available from: https://simplifier.net/NFDI4Health-Metadata-Schema/~introduction. https://simplifier.net/NFDI4Health-Metadata-Schema/~introduction 0 0 0 0