The paper considers medical knowledge extraction for the diagnosis of rare hereditary diseases. The specific feature of the proposed approach is the combination of expert estimates of the symptom presence probability with three complementary factors of confidence: time of manifestation, severity and frequency of symptom manifestation in different age ranges. Preliminary textological cards used by experts and cognitive scientists are formed based on the linguistic analysis of related literature.
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Kobrinskii B. A., Demikova N. S., Blagosklonov N. A. Knowledge Engineering in Construction of Expert Systems on Hereditary Disease // Communications in Computer and Information Science. Vol. 934: Artificial Intelligence. 16th Russian Conference, RCAI 2018, Moscow, Russia, September 24-27, 2018, Proceedings. Springer, 2018. P. 35-45.