{"id":"https://openalex.org/W3164141774","doi":"https://doi.org/10.3233/shti210356","title":"A Medical Report Feature for OSSE Rare Disease Registries","display_name":"A Medical Report Feature for OSSE Rare Disease Registries","publication_year":2021,"publication_date":"2021-05-27","ids":{"openalex":"https://openalex.org/W3164141774","doi":"https://doi.org/10.3233/shti210356","mag":"3164141774","pmid":"https://pubmed.ncbi.nlm.nih.gov/34042849"},"language":"en","primary_location":{"id":"doi:10.3233/shti210356","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210356","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210356","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/SHTI210356","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025952325","display_name":"Katja Schueler","orcid":null},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Katja Schueler","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003745934","display_name":"Axel Zieschank","orcid":null},"institutions":[{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]},{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Axel Zieschank","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020050824","display_name":"Jens G\u00f6bel","orcid":"https://orcid.org/0000-0001-8625-0841"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jens G\u00f6bel","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070788834","display_name":"Jessica Vasseur","orcid":"https://orcid.org/0000-0002-7378-9829"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jessica Vasseur","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000542822","display_name":"Jannik Schaaf","orcid":"https://orcid.org/0000-0002-0058-155X"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jannik Schaaf","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034792878","display_name":"Katharina Hohenfellner","orcid":"https://orcid.org/0000-0003-0978-8087"},"institutions":[{"id":"https://openalex.org/I4210129132","display_name":"RoMed Kliniken","ror":"https://ror.org/036rgb954","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210129132"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Katharina Hohenfellner","raw_affiliation_strings":["RoMed Klinikum Rosenheim, Germany"],"affiliations":[{"raw_affiliation_string":"RoMed Klinikum Rosenheim, Germany","institution_ids":["https://openalex.org/I4210129132"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060766831","display_name":"Sarah Wildenhain","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sarah Wildenhain","raw_affiliation_strings":["LIBERTAMED GmbH, Germany"],"affiliations":[{"raw_affiliation_string":"LIBERTAMED GmbH, Germany","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089041972","display_name":"Holger Storf","orcid":"https://orcid.org/0000-0001-8126-9535"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Holger Storf","raw_affiliation_strings":["Medical Informatics Group, University Hospital Frankfurt, Germany"],"affiliations":[{"raw_affiliation_string":"Medical Informatics Group, University Hospital Frankfurt, Germany","institution_ids":["https://openalex.org/I4210132578","https://openalex.org/I114090438"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5025952325"],"corresponding_institution_ids":["https://openalex.org/I114090438","https://openalex.org/I4210132578"],"apc_list":null,"apc_paid":null,"fwci":1.1363,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.78624669,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"281","issue":null,"first_page":"1085","last_page":"1086"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9968000054359436,"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":0.9968000054359436,"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":0.9779999852180481,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/feature","display_name":"Feature (linguistics)","score":0.7497940063476562},{"id":"https://openalex.org/keywords/download","display_name":"Download","score":0.6150085926055908},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6146971583366394},{"id":"https://openalex.org/keywords/process","display_name":"Process (computing)","score":0.5257388353347778},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.521074652671814},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.4765204191207886},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4210270643234253},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.337998628616333},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.32093459367752075},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.2690610885620117},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.08665302395820618}],"concepts":[{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.7497940063476562},{"id":"https://openalex.org/C2780154274","wikidata":"https://www.wikidata.org/wiki/Q7126717","display_name":"Download","level":2,"score":0.6150085926055908},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6146971583366394},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.5257388353347778},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.521074652671814},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.4765204191207886},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4210270643234253},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.337998628616333},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.32093459367752075},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2690610885620117},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.08665302395820618},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[{"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":"D008499","descriptor_name":"Medical Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008499","descriptor_name":"Medical Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008499","descriptor_name":"Medical Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3233/shti210356","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210356","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210356","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:34042849","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34042849","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/shti210356","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti210356","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI210356","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":[{"display_name":"Partnerships for the goals","id":"https://metadata.un.org/sdg/17","score":0.5299999713897705}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3164141774.pdf","grobid_xml":"https://content.openalex.org/works/W3164141774.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W2015645943","https://openalex.org/W2102759945","https://openalex.org/W2582743722","https://openalex.org/W4399637284","https://openalex.org/W6869272565"],"related_works":["https://openalex.org/W2183842793","https://openalex.org/W2485259751","https://openalex.org/W2790809966","https://openalex.org/W4287615848","https://openalex.org/W4291722174","https://openalex.org/W2970575569","https://openalex.org/W4225768143","https://openalex.org/W2226303319","https://openalex.org/W4389542061","https://openalex.org/W2485273903"],"abstract_inverted_index":{"Web-based":[0],"patient":[1],"registries":[2],"support":[3],"clinicians":[4,58],"by":[5],"providing":[6],"a":[7,18,36],"way":[8],"to":[9,48,61],"effectively":[10],"store":[11],"and":[12],"process":[13,44],"data.":[14],"Here,":[15],"we":[16,41],"present":[17],"new":[19],"feature":[20,56],"for":[21],"the":[22,43,49,59],"open-source":[23],"registry":[24],"software":[25],"OSSE:":[26],"medical":[27],"reports":[28,68],"generated":[29],"with":[30],"R":[31],"Markdown.":[32],"As":[33],"part":[34],"of":[35,52],"rare":[37,72],"disease":[38,73],"research":[39],"project,":[40],"describe":[42],"from":[45,69],"requirements":[46],"assessment":[47],"current":[50],"state":[51],"technical":[53],"implementation.":[54],"The":[55],"offers":[57],"possibility":[60],"download":[62],"customised":[63],"as":[64,66],"well":[65],"generic":[67],"an":[70],"OSSE":[71],"registry.":[74]},"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}