Computer-assisted diagnosis of rare diseases.

T Müller, A Jerrentrup, J R Schäfer,


Der Internist, April 1, 2017


To establish a comprehensive diagnosis is by far the most challenging task in a physician’s daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations. An outlook is given to social media usage and big data technologies. Due to the high number of initial misdiagnoses and long periods of time until a confirmatory diagnosis is reached, these tools might be promising in practice to improve the diagnosis of rare diseases.


Pubmed Link: 28364276

DOI: 10.1007/s00108-017-0218-z