{"id":"https://openalex.org/W7140233609","doi":"https://doi.org/10.1016/j.procs.2026.03.119","title":"A Knowledge Representation Framework for Rare Diseases Governance within the Brazilian Healthcare System","display_name":"A Knowledge Representation Framework for Rare Diseases Governance within the Brazilian Healthcare System","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7140233609","doi":"https://doi.org/10.1016/j.procs.2026.03.119"},"language":"en","primary_location":{"id":"doi:10.1016/j.procs.2026.03.119","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.procs.2026.03.119","pdf_url":null,"source":{"id":"https://openalex.org/S120348307","display_name":"Procedia Computer Science","issn_l":"1877-0509","issn":["1877-0509"],"is_oa":true,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Procedia Computer Science","raw_type":"journal-article"},"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.1016/j.procs.2026.03.119","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Diego Bettiol Yamada","orcid":null},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Diego Bettiol Yamada","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Tatiana Takahasi Komoto","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tatiana Takahasi Komoto","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Vin\u00edcius Costa Lima","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vin\u00edcius Costa Lima","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Julio Souza","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julio Souza","raw_affiliation_strings":["Institute of Engineering, Polytechnic of Porto, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Engineering, Polytechnic of Porto, Porto, Portugal","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Dantony de Castro Barros Donato","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dantony de Castro Barros Donato","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michele Seixas","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michele Seixas","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Victor Cass\u00e3o","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Victor Cass\u00e3o","raw_affiliation_strings":["Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Amaury Lelis Dal Fabbro","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Amaury Lelis Dal Fabbro","raw_affiliation_strings":["Department of Social Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Social Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Victor Evangelista de Faria Ferraz","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Victor Evangelista de Faria Ferraz","raw_affiliation_strings":["Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Domingos Alves","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Domingos Alves","raw_affiliation_strings":["Department of Social Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Social Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":10,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.67567346,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"278","issue":null,"first_page":"1350","last_page":"1357"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5008000135421753,"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":0.5008000135421753,"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":0.11379999667406082,"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/T10215","display_name":"Semantic Web and Ontologies","score":0.06499999761581421,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/corporate-governance","display_name":"Corporate governance","score":0.5133000016212463},{"id":"https://openalex.org/keywords/health-care","display_name":"Health care","score":0.5094000101089478},{"id":"https://openalex.org/keywords/multidisciplinary-approach","display_name":"Multidisciplinary approach","score":0.5023999810218811},{"id":"https://openalex.org/keywords/variety","display_name":"Variety (cybernetics)","score":0.48989999294281006},{"id":"https://openalex.org/keywords/ontology","display_name":"Ontology","score":0.4715999960899353},{"id":"https://openalex.org/keywords/knowledge-sharing","display_name":"Knowledge sharing","score":0.45559999346733093},{"id":"https://openalex.org/keywords/consistency","display_name":"Consistency (knowledge bases)","score":0.45239999890327454},{"id":"https://openalex.org/keywords/process","display_name":"Process (computing)","score":0.4481000006198883},{"id":"https://openalex.org/keywords/vocabulary","display_name":"Vocabulary","score":0.4429999887943268},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.3977000117301941}],"concepts":[{"id":"https://openalex.org/C56739046","wikidata":"https://www.wikidata.org/wiki/Q192060","display_name":"Knowledge management","level":1,"score":0.7153000235557556},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6707000136375427},{"id":"https://openalex.org/C39389867","wikidata":"https://www.wikidata.org/wiki/Q380767","display_name":"Corporate governance","level":2,"score":0.5133000016212463},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.5094000101089478},{"id":"https://openalex.org/C22467394","wikidata":"https://www.wikidata.org/wiki/Q849359","display_name":"Multidisciplinary approach","level":2,"score":0.5023999810218811},{"id":"https://openalex.org/C136197465","wikidata":"https://www.wikidata.org/wiki/Q1729295","display_name":"Variety (cybernetics)","level":2,"score":0.48989999294281006},{"id":"https://openalex.org/C25810664","wikidata":"https://www.wikidata.org/wiki/Q44325","display_name":"Ontology","level":2,"score":0.4715999960899353},{"id":"https://openalex.org/C2776604539","wikidata":"https://www.wikidata.org/wiki/Q6423395","display_name":"Knowledge sharing","level":2,"score":0.45559999346733093},{"id":"https://openalex.org/C2776436953","wikidata":"https://www.wikidata.org/wiki/Q5163215","display_name":"Consistency (knowledge bases)","level":2,"score":0.45239999890327454},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.4481000006198883},{"id":"https://openalex.org/C2777601683","wikidata":"https://www.wikidata.org/wiki/Q6499736","display_name":"Vocabulary","level":2,"score":0.4429999887943268},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.3977000117301941},{"id":"https://openalex.org/C207685749","wikidata":"https://www.wikidata.org/wiki/Q2088941","display_name":"Domain knowledge","level":2,"score":0.39239999651908875},{"id":"https://openalex.org/C206345919","wikidata":"https://www.wikidata.org/wiki/Q20380951","display_name":"Resource (disambiguation)","level":2,"score":0.3898000121116638},{"id":"https://openalex.org/C2776359362","wikidata":"https://www.wikidata.org/wiki/Q2145286","display_name":"Representation (politics)","level":3,"score":0.38850000500679016},{"id":"https://openalex.org/C161301231","wikidata":"https://www.wikidata.org/wiki/Q3478658","display_name":"Knowledge representation and reasoning","level":2,"score":0.38690000772476196},{"id":"https://openalex.org/C2780378061","wikidata":"https://www.wikidata.org/wiki/Q25351891","display_name":"Service (business)","level":2,"score":0.3402000069618225},{"id":"https://openalex.org/C2779561248","wikidata":"https://www.wikidata.org/wiki/Q743861","display_name":"Tacit knowledge","level":2,"score":0.3010999858379364},{"id":"https://openalex.org/C115925183","wikidata":"https://www.wikidata.org/wiki/Q1412694","display_name":"Knowledge-based systems","level":2,"score":0.30079999566078186},{"id":"https://openalex.org/C2129575","wikidata":"https://www.wikidata.org/wiki/Q54837","display_name":"Semantic Web","level":2,"score":0.2994000017642975},{"id":"https://openalex.org/C195094911","wikidata":"https://www.wikidata.org/wiki/Q14167904","display_name":"Process management","level":1,"score":0.296999990940094},{"id":"https://openalex.org/C147859227","wikidata":"https://www.wikidata.org/wiki/Q294217","display_name":"Public sector","level":2,"score":0.2750000059604645},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.2727000117301941},{"id":"https://openalex.org/C101230327","wikidata":"https://www.wikidata.org/wiki/Q826165","display_name":"Web Ontology Language","level":3,"score":0.27219998836517334},{"id":"https://openalex.org/C547195049","wikidata":"https://www.wikidata.org/wiki/Q1725664","display_name":"Terminology","level":2,"score":0.2653999924659729},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.26339998841285706},{"id":"https://openalex.org/C29804473","wikidata":"https://www.wikidata.org/wiki/Q2025711","display_name":"Open Knowledge Base Connectivity","level":4,"score":0.2621999979019165},{"id":"https://openalex.org/C2780598303","wikidata":"https://www.wikidata.org/wiki/Q65921492","display_name":"Flexibility (engineering)","level":2,"score":0.2603999972343445},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.2581999897956848},{"id":"https://openalex.org/C2778149918","wikidata":"https://www.wikidata.org/wiki/Q3291156","display_name":"Population health","level":3,"score":0.25780001282691956},{"id":"https://openalex.org/C56289545","wikidata":"https://www.wikidata.org/wiki/Q6423376","display_name":"Knowledge integration","level":3,"score":0.2567000091075897},{"id":"https://openalex.org/C2780110086","wikidata":"https://www.wikidata.org/wiki/Q161837","display_name":"Public service","level":2,"score":0.2556999921798706},{"id":"https://openalex.org/C145642194","wikidata":"https://www.wikidata.org/wiki/Q870895","display_name":"Health informatics","level":3,"score":0.25540000200271606}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.procs.2026.03.119","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.procs.2026.03.119","pdf_url":null,"source":{"id":"https://openalex.org/S120348307","display_name":"Procedia Computer Science","issn_l":"1877-0509","issn":["1877-0509"],"is_oa":true,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Procedia Computer Science","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.procs.2026.03.119","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.procs.2026.03.119","pdf_url":null,"source":{"id":"https://openalex.org/S120348307","display_name":"Procedia Computer Science","issn_l":"1877-0509","issn":["1877-0509"],"is_oa":true,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Procedia Computer Science","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320997","display_name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","ror":"https://ror.org/02ddkpn78"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1802346448","https://openalex.org/W1968234051","https://openalex.org/W2127480960","https://openalex.org/W2137079713","https://openalex.org/W2168120333","https://openalex.org/W2798814792","https://openalex.org/W3023306850","https://openalex.org/W3112861857","https://openalex.org/W3202960634","https://openalex.org/W4205733903","https://openalex.org/W4210610481","https://openalex.org/W4213440925","https://openalex.org/W4311378564","https://openalex.org/W4382463073","https://openalex.org/W4385660176","https://openalex.org/W4392866086","https://openalex.org/W4401016221","https://openalex.org/W4403892217","https://openalex.org/W4411866415"],"related_works":[],"abstract_inverted_index":{"Rare":[0],"diseases":[1],"(RDs),":[2],"despite":[3],"their":[4,18],"low":[5],"individual":[6],"prevalence,":[7],"collectively":[8],"affect":[9],"a":[10,86,94,154],"significant":[11],"portion":[12],"of":[13,25,110,130,140,183],"the":[14,53,108,116,128,136,144,181,184,188],"population":[15],"due":[16],"to":[17,41,56,74,118,134,179],"wide":[19],"variety":[20],"and":[21,31,44,106,122,138,164,169,202],"diversity.":[22],"The":[23],"management":[24,137,156],"RDs":[26],"poses":[27],"substantial":[28],"informational,":[29],"clinical,":[30],"managerial":[32],"challenges,":[33],"requiring":[34],"coordinated":[35],"action":[36],"from":[37],"multidisciplinary":[38],"healthcare":[39,78,147,207],"teams":[40],"ensure":[42],"comprehensive":[43],"universal":[45],"care,":[46],"as":[47,82],"mandated":[48],"by":[49,97],"Brazilian":[50,145],"legislation.":[51],"However,":[52],"knowledge":[54,70,101,131,155],"necessary":[55],"support":[57],"these":[58],"complex":[59],"processes":[60],"is":[61,72],"often":[62],"fragmented":[63],"or":[64],"lacking.":[65],"In":[66],"this":[67],"context,":[68],"structured":[69],"sharing":[71],"essential":[73],"promote":[75],"integration":[76],"among":[77],"units,":[79],"which":[80],"act":[81],"interconnected":[83],"nodes":[84],"within":[85],"public":[87,146,160],"health":[88,120],"network.":[89],"Knowledge":[90],"representation":[91,132],"techniques":[92],"play":[93],"crucial":[95],"role":[96],"identifying":[98],"workflows,":[99],"mapping":[100,165],"gaps,":[102],"externalizing":[103],"tacit":[104],"knowledge,":[105],"facilitating":[107],"dissemination":[109],"best":[111],"practices.":[112],"These":[113],"approaches":[114],"have":[115],"potential":[117],"enhance":[119],"planning":[121],"service":[123,200],"efficiency.":[124],"This":[125,190],"study":[126],"proposes":[127],"application":[129],"methods":[133],"improve":[135],"governance":[139,204],"RD":[141],"services":[142],"in":[143,187,205],"system.":[148],"We":[149],"employ":[150],"validated":[151],"strategies,":[152],"including":[153],"model":[157],"adapted":[158],"for":[159],"administration,":[161],"process":[162],"modeling":[163],"methods,":[166],"vocabulary":[167],"standardization,":[168],"semantic":[170],"ontology":[171],"design.":[172],"A":[173],"reasoning":[174],"tool":[175],"was":[176],"then":[177],"applied":[178],"verify":[180],"consistency":[182],"representations":[185],"defined":[186],"ontology.":[189],"contribution":[191],"supports":[192],"better":[193],"decision-making,":[194],"more":[195],"effective":[196],"resource":[197],"allocation,":[198],"improved":[199],"delivery,":[201],"stronger":[203],"high-complexity":[206],"environments.":[208]},"counts_by_year":[],"updated_date":"2026-04-25T08:17:42.794288","created_date":"2026-03-25T00:00:00"}