作者
Marc Pinol, Rui Alves, Ivan Teixido, Jordi Mateo, Francesc Solsona, Ester Vilaprinyó
发表日期
2017/3/27
期刊
IEEE Transactions on Industrial Informatics
卷号
13
期号
3
页码范围
1184-1192
出版商
IEEE
简介
The initial diagnosis of rare diseases is difficult because they are infrequent and doctors do not often see or recognize their symptoms. Developing tools to assist in this diagnosis would provide a way to facilitate medical practice in this area. The broader goal of this project is to develop such a tool, which we name rare disease discovery (http://disease-discovery.udl.cat). This tool is designed to identify rare diseases on the basis of a patient's symptoms. To create it, several software entities were designed and integrated. First, a database of symptoms associated with every human rare disease known was designed and implemented. This database was derived from information available from Orphanet. Orphanet provides gold-standard data regarding rare diseases in the world. Second, a user-friendly website was also designed, implemented, and connected to the database. This website connects the users, the …
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M Pinol, R Alves, I Teixido, J Mateo, F Solsona… - IEEE Transactions on Industrial Informatics, 2017