ArticleJournal of the American Medical Informatics Association : JAMIA2015
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.
Article in Journal of the American Medical Informatics Association : JAMIA, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The Minimum Data Set for Rare Diseases: Systematic Review.Journal of medical Internet research · 2023Pooled it
- A Standardised Core Outcome Set for Measurement and Reporting Sedentary Behaviour Interventional Research: The CROSBI Consensus Study.International journal of environmental research and public health · 2022Pooled it
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Progress and challenges in development of minimum essential dataset for disease surveillance through a One Health lens: a scoping review.Infectious diseases of poverty · 2026Article
- Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).Orphanet journal of rare diseases · 2025Article
- Sucessful Transition in Rare Endocrine Diseases: Patient Experiences in a French Reference Centre.Clinical endocrinology · 2025Article
- Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).European journal of neurology · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned.Orphanet journal of rare diseases · 2024Article
- Clinical Research Informatics: a Decade-in-Review.Yearbook of medical informatics · 2024Review
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries.Orphanet journal of rare diseases · 2024Article
- Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.Orphanet journal of rare diseases · 2024Article
- Minimum data set for treatment effectiveness in pyoderma gangrenosum (MIDSTEP): an international protocol of an e-Delphi study to develop a clinical physician-driven treatment effectiveness registry on behalf of the UPGRADE initiative.Archives of dermatological research · 2023Article
- New insights into epidemiological data and impact of the COVID-19 pandemic on IgA vasculitis in children and adults: a French nationwide cohort.Rheumatology international · 2023Observational
- Methods Used in the Development of Common Data Models for Health Data: Scoping Review.JMIR medical informatics · 2023Article
- Overview of patients' cohorts in the French National rare disease registry.Orphanet journal of rare diseases · 2023Article
- Article
- Iranian school-aged twin registry: preliminary reports and project progress.BMC pediatrics · 2023Article
- Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.Frontiers in public health · 2023Article
- Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough rare disease patients make up approximately 6-8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented.
methodsTo encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records.
resultsThe F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries.
conclusionsThe French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients' eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.
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