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An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.

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Title: An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.
Authors: Graefe ASL; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.; Institute for Biomedical Informatics, University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de., Hübner MR; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Rehburg F; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Sander S; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Klopfenstein SAI; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Alkarkoukly S; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Grönke A; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Weyersberg A; Department of Paediatrics, University Hospital Cologne, Cologne, Germany., Danis D; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Goettingen, Germany., Nyoungui EF; Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany., Wiegand S; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany., Kühnen P; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases - Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), Partner Site Berlin, Berlin, Germany., Robinson PN; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA., Beyan O; Institute for Biomedical Informatics, University Hospital Cologne, Cologne, Germany., Thun S; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
Source: Scientific data [Sci Data] 2025 Feb 08; Vol. 12 (1), pp. 234. Date of Electronic Publication: 2025 Feb 08.
Publication Type: Journal Article; Dataset
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE
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  Data: An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.
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  Data: <searchLink fieldCode="AU" term="%22Graefe+ASL%22">Graefe ASL</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.; Institute for Biomedical Informatics, University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de.<br /><searchLink fieldCode="AU" term="%22Hübner+MR%22">Hübner MR</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Rehburg+F%22">Rehburg F</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Sander+S%22">Sander S</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Klopfenstein+SAI%22">Klopfenstein SAI</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Alkarkoukly+S%22">Alkarkoukly S</searchLink>; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Grönke+A%22">Grönke A</searchLink>; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Weyersberg+A%22">Weyersberg A</searchLink>; Department of Paediatrics, University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Danis+D%22">Danis D</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Zschüntzsch+J%22">Zschüntzsch J</searchLink>; Department of Neurology, University Medical Center Goettingen, Goettingen, Germany.<br /><searchLink fieldCode="AU" term="%22Nyoungui+EF%22">Nyoungui EF</searchLink>; Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wiegand+S%22">Wiegand S</searchLink>; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Kühnen+P%22">Kühnen P</searchLink>; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases - Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), Partner Site Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Beyan+O%22">Beyan O</searchLink>; Institute for Biomedical Informatics, University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Thun+S%22">Thun S</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
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