e-RARE: Interactive Diagnostic Assistance for Rare Diseases through Dynamic Taxonomies

A system for the computer-aided guided interactive diagnosis of rare diseases is presented. It is based on dynamic taxonomies, a knowledge management model that allows the guided interactive exploration of complex information bases. The problem of the diagnosis of pathologies is recasted as a problem of exploring and thinning out candidate pathologies on the basis of clinical signs and other observable features. Our early experience with this tool is discussed both in terms of advantages with respect to existing approaches, and in terms of extensions and improvements.