ArticleJMIR medical informatics2022
Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research.
Article in JMIR medical informatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.Scientific data · 2026Article
- Toward Precision Oral Medicine in Pemphigus Vulgaris: A Conceptual AI Framework for Rituximab Response Prediction.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.Journal of medical systems · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.NPJ genomic medicine · 2025Article
- Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.medRxiv : the preprint server for health sciences · 2025Article
- An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Scientific data · 2025Article
- Physical therapy registries worldwide: A systematic review.Health science reports · 2024Review
- How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned.Orphanet journal of rare diseases · 2024Article
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries.Orphanet journal of rare diseases · 2024Article
- Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.Clinical trials (London, England) · 2024Review
- Navigating the unknown: how to best 'reflect' standard of care in indications without a dedicated treatment pathway in health technology assessment submissions.Journal of comparative effectiveness research · 2024Review
- Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.International journal of neonatal screening · 2024Article
- Together4RD position statement on collaboration between European reference networks and industry.Orphanet journal of rare diseases · 2023Article
- ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.Orphanet journal of rare diseases · 2023Article
- A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.Orphanet journal of rare diseases · 2023Review
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7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWith hundreds of registries across Europe, rare diseases (RDs) suffer from fragmented knowledge, expertise, and research. A joint initiative of the European Commission Joint Research Center and its European Platform on Rare Disease Registration (EU RD Platform), the European Reference Networks (ERNs), and the European Joint Programme on Rare Diseases (EJP RD) was launched in 2020. The purpose was to extend the set of common data elements (CDEs) for RD registration by defining domain-specific CDEs (DCDEs).
objectiveThis study aims to introduce and assess the feasibility of the concept of a joint initiative that unites the efforts of the European Platform on Rare Disease Registration Platform, ERNs, and European Joint Programme on Rare Diseases toward extending RD CDEs, aiming to improve the semantic interoperability of RD registries and enhance the quality of RD research.
methodsA joint conference was conducted in December 2020. All 24 ERNs were invited. Before the conference, a survey was communicated to all ERNs, proposing 18 medical domains and requesting them to identify highly relevant choices. After the conference, a 3-phase plan for defining and modeling DCDEs was drafted. Expected outcomes included harmonized lists of DCDEs.
resultsAll ERNs attended the conference. The survey results indicated that genetic, congenital, pediatric, and cancer were the most overlapping domains. Accordingly, the proposed list was reorganized into 10 domain groups and recommunicated to all ERNs, aiming at a smaller number of domains.
conclusionsThe approach described for defining DCDEs appears to be feasible. However, it remains dynamic and should be repeated regularly based on arising research needs.
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