{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T14:19:59Z","timestamp":1771337999660,"version":"3.50.1"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background Although rare disease patients make up approximately 6\u20138% 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.<\/jats:p>\n               <jats:p>Methods To 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.<\/jats:p>\n               <jats:p>Results The 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.<\/jats:p>\n               <jats:p>Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients\u2019 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.<\/jats:p>","DOI":"10.1136\/amiajnl-2014-002794","type":"journal-article","created":{"date-parts":[[2014,7,19]],"date-time":"2014-07-19T03:40:02Z","timestamp":1405741202000},"page":"76-85","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":62,"title":["A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research"],"prefix":"10.1093","volume":"22","author":[{"given":"R\u00e9my","family":"Choquet","sequence":"first","affiliation":[{"name":"BNDMR, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker Enfants Malades, Paris, France"},{"name":"INSERM, U1142, LIMICS, Paris, France"}]},{"given":"Meriem","family":"Maaroufi","sequence":"additional","affiliation":[{"name":"BNDMR, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker Enfants Malades, Paris, France"},{"name":"INSERM, U1142, LIMICS, Paris, France"}]},{"given":"Albane","family":"de Carrara","sequence":"additional","affiliation":[{"name":"BNDMR, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker Enfants Malades, Paris, France"}]},{"given":"Claude","family":"Messiaen","sequence":"additional","affiliation":[{"name":"BNDMR, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker Enfants Malades, Paris, France"}]},{"given":"Emmanuel","family":"Luigi","sequence":"additional","affiliation":[{"name":"Direction G\u00e9n\u00e9rale de l'Offre de Soins, Minist\u00e8re de la Sant\u00e9 et de la Solidarit\u00e9, Paris, France"}]},{"given":"Paul","family":"Landais","sequence":"additional","affiliation":[{"name":"BNDMR, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker Enfants Malades, Paris, France"},{"name":"Faculty of Medicine, EA2415, Clinical Research University Institute, Montpellier 1 University and BESPIM, N\u00eemes University Hospital, France"}]}],"member":"286","published-online":{"date-parts":[[2014,7,18]]},"reference":[{"key":"2020110613013131500_R1"},{"key":"2020110613013131500_R2","author":"EURORDIS"},{"key":"2020110613013131500_R3","author":"van Weely"},{"key":"2020110613013131500_R4"},{"key":"2020110613013131500_R5","author":"EUCERD"},{"key":"2020110613013131500_R6","author":"U.S. Food and Drug Administration"},{"key":"2020110613013131500_R7","author":"European Commission"},{"key":"2020110613013131500_R8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2796.2006.01666.x","article-title":"A journey of hope: lessons learned from studies on rare diseases and orphan drugs","volume":"260","author":"W\u00e4stfelt","year":"2006","journal-title":"J Intern Med"},{"key":"2020110613013131500_R9"},{"key":"2020110613013131500_R10"},{"key":"2020110613013131500_R11"},{"key":"2020110613013131500_R12"},{"key":"2020110613013131500_R13","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.cct.2010.06.007","article-title":"Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)","volume":"31","author":"Rubinstein","year":"2010","journal-title":"Contemp Clin Trials"},{"key":"2020110613013131500_R14","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/S0140-6736(08)61126-5","article-title":"Minimum dataset needed for confirmed human H5N1 cases","volume":"372","author":"Bird","year":"2008","journal-title":"Lancet"},{"key":"2020110613013131500_R15","first-page":"331","article-title":"Improving the comparability of cancer registry treatment data and proposals for a new national minimum dataset","volume":"16","author":"Pheby","year":"1994","journal-title":"J Public Health Med"},{"key":"2020110613013131500_R16","first-page":"317","article-title":"Creating a general practice national minimum data set: present possibility or future plan?","volume":"111","author":"Tilyard","year":"1998","journal-title":"N Z Med J"},{"key":"2020110613013131500_R17","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1136\/jms.5.2.109","article-title":"A minimum dataset for newborn screening","volume":"5","author":"Webster","year":"1998","journal-title":"J Med Screen"},{"key":"2020110613013131500_R18","doi-asserted-by":"crossref","first-page":"421","DOI":"10.2105\/AJPH.81.4.421","article-title":"The nursing minimum data set: abstraction tool for standardized, comparable, essential data","volume":"81","author":"Werley","year":"1991","journal-title":"Am J Public Health"},{"key":"2020110613013131500_R19"},{"key":"2020110613013131500_R20"},{"key":"2020110613013131500_R21","first-page":"131","article-title":"The core data elements of electronic health record in Finland","volume":"116","author":"H\u00e4yrinen","year":"2005","journal-title":"Stud Health Technol Inform"},{"key":"2020110613013131500_R22","first-page":"27","volume-title":"Insight","author":"EyeGENE\u2013National Ophthalmic Disease Genotyping Network"},{"key":"2020110613013131500_R23","first-page":"41","article-title":"Development of common data elements: the experience of and recommendations from the early detection research network","volume":"5056","author":"Winget","year":"2003"},{"key":"2020110613013131500_R24","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.bbi.2012.01.014","article-title":"Minimum data elements for research reports on CFS","volume":"26","author":"Jason","year":"2012","journal-title":"Brain Behav Immun"},{"key":"2020110613013131500_R25","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1016\/S0140-6736(10)60680-0","article-title":"The case for a global rare-diseases registry","volume":"377","author":"Forrest","year":"2011","journal-title":"Lancet"},{"key":"2020110613013131500_R26","first-page":"54","article-title":"A framework and standardized methodology for developing minimum clinical datasets","volume":"2011","author":"Svensson-Ranallo","year":"2011","journal-title":"AMIA Summits Transl Sci Proc"},{"key":"2020110613013131500_R27","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1016\/j.jacc.2012.12.047","article-title":"Standardized cardiovascular data for clinical research, registries, and patient care: a report from the Data Standards Workgroup of the National Cardiovascular Research Infrastructure project","volume":"61","author":"Anderson","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"2020110613013131500_R28","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ijmedinf.2012.11.008","article-title":"Secondary use of routinely collected patient data in a clinical trial: an evaluation of the effects on patient recruitment and data acquisition","volume":"82","author":"K\u00f6pcke","year":"2013","journal-title":"Int J Med Inform"},{"key":"2020110613013131500_R29","first-page":"140","article-title":"The HL7 approach to semantic interoperability","author":"Landgrebe","year":"2011","journal-title":"Int Conf Biomed Ontol"},{"key":"2020110613013131500_R30","first-page":"1117","article-title":"Facilitating secondary use of medical data by using openEHR archetypes","volume":"160","author":"Kohl","year":"2010","journal-title":"Stud Health Technol Inform"},{"key":"2020110613013131500_R31"},{"key":"2020110613013131500_R32","first-page":"845","article-title":"The SNOMED clinical terms development process: refinement and analysis of content","author":"Wang","year":"2002","journal-title":"Proc AMIA Symp"},{"key":"2020110613013131500_R33","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/j.1399-0004.2010.01436.x","article-title":"The human phenotype ontology","volume":"77","author":"Robinson","year":"2010","journal-title":"Clin Genet"},{"key":"2020110613013131500_R34"},{"issue":"(Suppl 4)","key":"2020110613013131500_R35","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1186\/1471-2105-12-S4-S5","article-title":"A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form","volume":"12","author":"Laros","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"2020110613013131500_R36"},{"key":"2020110613013131500_R37","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.jbi.2013.05.009","article-title":"A federated semantic metadata registry framework for enabling interoperability across clinical research and care domains","volume":"46","author":"Sinaci","year":"2013","journal-title":"J Biomed Inform"},{"key":"2020110613013131500_R38","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1197\/jamia.M2556","article-title":"The BRIDG project: a technical report","volume":"15","author":"Fridsma","year":"2008","journal-title":"J Am Med Inform Assoc"},{"key":"2020110613013131500_R39","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1093\/jjco\/hyt013","article-title":"The national database of hospital-based cancer registries: a nationwide infrastructure to support evidence-based cancer care and cancer control policy in Japan","volume":"44","author":"Higashi","year":"2014","journal-title":"Jpn J Clin Oncol"},{"key":"2020110613013131500_R40"},{"key":"2020110613013131500_R41"},{"key":"2020110613013131500_R42","first-page":"481","article-title":"CEMARA an information system for rare diseases","volume":"160","author":"Landais","year":"2010","journal-title":"Stud Health Technol Inform"},{"key":"2020110613013131500_R43","author":"European Society for Immuno Deficiencies"},{"key":"2020110613013131500_R44","article-title":"OntoOrpha: an ontology to support the editing and audit of rare diseases knowledge in Orphanet","author":"Dhombres","year":"2011"},{"key":"2020110613013131500_R45","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1109\/CBMS.2013.6627810","article-title":"HL7 FHIR: An Agile and RESTful approach to healthcare information exchange","author":"Bender","year":"2013"},{"key":"2020110613013131500_R46","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1191\/1352458502ms823oa","article-title":"Analyses of the minimum data set: comparisons of nursing home residents with multiple sclerosis to other nursing home residents","volume":"8","author":"Buchanan","year":"2002","journal-title":"Mult Scler"},{"key":"2020110613013131500_R47","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jcf.2005.01.001","article-title":"Comparative analysis of Cystic Fibrosis Registry data from the UK with USA, France and Australasia","volume":"4","author":"McCormick","year":"2005","journal-title":"J Cyst Fibros"},{"key":"2020110613013131500_R48","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1191\/1352458505ms1199oa","article-title":"Nursing home residents with multiple sclerosis and dementia compared to other multiple sclerosis residents","volume":"11","author":"Buchanan","year":"2005","journal-title":"Mult Scler"},{"key":"2020110613013131500_R49","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/j.1445-5994.2006.01297.x","article-title":"Wegener's granulomatosis in New Zealand: evidence for a latitude-dependent incidence gradient","volume":"37","author":"O'Donnell","year":"2007","journal-title":"Intern Med J"},{"key":"2020110613013131500_R50","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1089\/neu.2011.1952","article-title":"Common data elements for pediatric traumatic brain injury: recommendations from the working group on demographics and clinical assessment","volume":"29","author":"Adelson","year":"2012","journal-title":"J Neurotrauma"},{"key":"2020110613013131500_R51","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/S0387-7604(01)00193-0","article-title":"Guidelines for reporting clinical features in cases with MECP2 mutations","volume":"23","author":"Kerr","year":"2001","journal-title":"Brain Dev"},{"key":"2020110613013131500_R52"},{"key":"2020110613013131500_R53","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/1471-2458-11-86","article-title":"Utility of electronic patient records in primary care for stroke secondary prevention trials","volume":"11","author":"Dregan","year":"2011","journal-title":"BMC Public Health"},{"key":"2020110613013131500_R54","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.jbi.2010.03.014","article-title":"The utility of general purpose versus specialty clinical databases for research: warfarin dose estimation from extracted clinical variables","volume":"43","author":"Sagreiya","year":"2010","journal-title":"J Biomed Inform"},{"key":"2020110613013131500_R55","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.cct.2011.10.004","article-title":"Informed consent process for patient participation in rare disease registries linked to biorepositories","volume":"33","author":"Rubinstein","year":"2012","journal-title":"Contemp Clin Trials"},{"key":"2020110613013131500_R56"},{"key":"2020110613013131500_R57","author":"Commission"}],"container-title":["Journal of the American Medical Informatics Association"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jamia\/article-pdf\/22\/1\/76\/34145130\/amiajnl-2014-002794.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jamia\/article-pdf\/22\/1\/76\/34145130\/amiajnl-2014-002794.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,6]],"date-time":"2020-11-06T18:49:52Z","timestamp":1604688592000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jamia\/article\/22\/1\/76\/833728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,18]]},"references-count":57,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,7,18]]},"published-print":{"date-parts":[[2015,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/amiajnl-2014-002794","relation":{},"ISSN":["1527-974X","1067-5027"],"issn-type":[{"value":"1527-974X","type":"electronic"},{"value":"1067-5027","type":"print"}],"subject":[],"published-other":{"date-parts":[[2015,1]]},"published":{"date-parts":[[2014,7,18]]}}}