{"id":"https://openalex.org/W3165625975","doi":"https://doi.org/10.3233/shti210136","title":"Adaption of the OMOP CDM for Rare Diseases","display_name":"Adaption of the OMOP CDM for Rare Diseases","publication_year":2021,"publication_date":"2021-05-27","ids":{"openalex":"https://openalex.org/W3165625975","doi":"https://doi.org/10.3233/shti210136","mag":"3165625975","pmid":"https://pubmed.ncbi.nlm.nih.gov/34042721"},"language":"en","primary_location":{"id":"doi:10.3233/shti210136","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210136","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210136","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"type":"book-chapter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210136","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047827763","display_name":"Mich\u00e9le Zoch","orcid":"https://orcid.org/0000-0002-5577-7760"},"institutions":[{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]},{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Michele Zoch","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081574356","display_name":"Christian Gierschner","orcid":"https://orcid.org/0009-0000-5444-8562"},"institutions":[{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]},{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christian Gierschner","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065519363","display_name":"Yuan Peng","orcid":"https://orcid.org/0000-0002-6163-9532"},"institutions":[{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]},{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Yuan Peng","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024273449","display_name":"Mirko Gruhl","orcid":null},"institutions":[{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]},{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Mirko Gruhl","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058364316","display_name":"Liz. A. Leutner","orcid":null},"institutions":[{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]},{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Liz. A. Leutner","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072891251","display_name":"Martin Sedlmayr","orcid":"https://orcid.org/0000-0002-9888-8460"},"institutions":[{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]},{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Martin Sedlmayr","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077252997","display_name":"Franziska Bathelt","orcid":"https://orcid.org/0000-0002-4139-5489"},"institutions":[{"id":"https://openalex.org/I4210162051","display_name":"University Hospital Carl Gustav Carus","ror":"https://ror.org/04za5zm41","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162051"]},{"id":"https://openalex.org/I78650965","display_name":"TU Dresden","ror":"https://ror.org/042aqky30","country_code":"DE","type":"education","lineage":["https://openalex.org/I78650965"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Franziska Bathelt","raw_affiliation_strings":["Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Medical Informatics and Biometry at Carl Gustav Carus Faculty of Medicine at Technische Universit\u00e4t Dresden, Germany","institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5047827763"],"corresponding_institution_ids":["https://openalex.org/I4210162051","https://openalex.org/I78650965"],"apc_list":null,"apc_paid":null,"fwci":12.4963,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.98797499,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"281","issue":null,"first_page":"138","last_page":"142"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9930999875068665,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9375,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.6844533681869507},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5816314816474915},{"id":"https://openalex.org/keywords/visualization","display_name":"Visualization","score":0.5057761669158936},{"id":"https://openalex.org/keywords/dashboard","display_name":"Dashboard","score":0.44326597452163696},{"id":"https://openalex.org/keywords/knowledge-management","display_name":"Knowledge management","score":0.3345676064491272},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.33325883746147156},{"id":"https://openalex.org/keywords/systems-engineering","display_name":"Systems engineering","score":0.33013811707496643},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.2935961186885834},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.1289946734905243}],"concepts":[{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.6844533681869507},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5816314816474915},{"id":"https://openalex.org/C36464697","wikidata":"https://www.wikidata.org/wiki/Q451553","display_name":"Visualization","level":2,"score":0.5057761669158936},{"id":"https://openalex.org/C33499554","wikidata":"https://www.wikidata.org/wiki/Q1417134","display_name":"Dashboard","level":2,"score":0.44326597452163696},{"id":"https://openalex.org/C56739046","wikidata":"https://www.wikidata.org/wiki/Q192060","display_name":"Knowledge management","level":1,"score":0.3345676064491272},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.33325883746147156},{"id":"https://openalex.org/C201995342","wikidata":"https://www.wikidata.org/wiki/Q682496","display_name":"Systems engineering","level":1,"score":0.33013811707496643},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.2935961186885834},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.1289946734905243},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D003695","descriptor_name":"Delivery of Health Care","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003695","descriptor_name":"Delivery of Health Care","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003695","descriptor_name":"Delivery of Health Care","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D039061","descriptor_name":"Systematized Nomenclature of Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D039061","descriptor_name":"Systematized Nomenclature of Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D039061","descriptor_name":"Systematized Nomenclature of Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3233/shti210136","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210136","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210136","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},{"id":"pmid:34042721","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34042721","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in health technology and informatics","raw_type":null}],"best_oa_location":{"id":"doi:10.3233/shti210136","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210136","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210136","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"sustainable_development_goals":[{"score":0.5400000214576721,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3165625975.pdf","grobid_xml":"https://content.openalex.org/works/W3165625975.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W1588986940","https://openalex.org/W1967656281","https://openalex.org/W1971192989","https://openalex.org/W1983965561","https://openalex.org/W2126714363","https://openalex.org/W2136410628","https://openalex.org/W2142667640","https://openalex.org/W2308510141","https://openalex.org/W2602238011","https://openalex.org/W2915954436","https://openalex.org/W2952495494","https://openalex.org/W3033581476","https://openalex.org/W3089086238","https://openalex.org/W3127519347","https://openalex.org/W4241484112"],"related_works":["https://openalex.org/W2607236244","https://openalex.org/W2382083831","https://openalex.org/W2169792944","https://openalex.org/W3048913176","https://openalex.org/W4386891374","https://openalex.org/W4292603292","https://openalex.org/W2947439131","https://openalex.org/W4390187560","https://openalex.org/W2808637346","https://openalex.org/W3197510214"],"abstract_inverted_index":{"The":[0],"OMOP":[1,33,62,118,140],"Common":[2],"Data":[3],"Model":[4],"(OMOP":[5],"CDM)":[6],"is":[7,37],"an":[8,19],"option":[9],"to":[10,15,23,39,53],"store":[11],"patient":[12,150],"data":[13,151],"and":[14,64,91,94,134,152],"use":[16,68],"these":[17,57],"in":[18,32,44,61],"international":[20,144],"context.":[21],"Up":[22],"now,":[24],"rare":[25,48,162],"diseases":[26,49],"can":[27,58,67,120,155],"only":[28],"be":[29,54,59,121],"partly":[30],"described":[31],"CDM.":[34],"Therefore,":[35],"it":[36,154],"necessary":[38],"investigate":[40],"which":[41],"special":[42],"features":[43],"the":[45,69,137,157],"context":[46],"of":[47,102,106,112,139,149,159],"(e.g.":[50],"terminologies)":[51],"have":[52],"considered,":[55],"how":[56,65,117],"included":[60],"CDM":[63,119,141],"physicians":[66,101],"data.":[70],"An":[71],"interdisciplinary":[72],"team":[73],"developed":[74],"(1)":[75],"a":[76,96,103],"Transition":[77],"Database":[78],"for":[79,100,124,132,143],"Rare":[80,97,107],"Diseases":[81,98,108],"by":[82,109,128],"mapping":[83],"Orpha":[84],"Code,":[85],"Alpha":[86],"ID,":[87],"SNOMED,":[88],"ICD-10-GM,":[89],"ICD-10-WHO":[90],"OMOP-conform":[92],"concepts;":[93],"(2)":[95],"Dashboard":[99],"German":[104],"Center":[105],"using":[110,129],"methods":[111],"user-centered":[113],"design.":[114],"This":[115],"demonstrated":[116],"flexibly":[122],"extended":[123],"different":[125],"medical":[126],"issues":[127],"independent":[130],"tools":[131],"mappings":[133],"visualization.":[135],"Thereby,":[136],"adaption":[138],"allows":[142],"collaboration,":[145],"enables":[146],"(distributed)":[147],"analysis":[148],"thus":[153],"improve":[156],"care":[158],"people":[160],"with":[161],"diseases.":[163]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":2}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
