A Knowledge Representation Framework for Rare Diseases Governance within the Brazilian Healthcare System
Diego Bettiol Yamada·Domingos Alves·Victor Evangelista de Faria Ferraz·Tatiana Takahasi Komoto·Dantony de Castro Barros Donato·Amaury Lélis Dal Fabbro·M. Seixas·Victor Cassão·Júlio Souza·Vinícius Lima
Rare diseases (RDs), despite their low individual prevalence, collectively affect a significant portion of the population due to their wide variety and diversity. The management of RDs poses substantial informational, clinical, and managerial challenges, requiring coordinated action from multidisciplinary healthcare teams to ensure comprehensive and universal care, as mandated by Brazilian legislation. However, the knowledge necessary to support these complex processes is often fragmented or lac