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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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