The paper describes the principles of creating an ontological-type knowledge base for diagnosing orphan diseases at the pre-laboratory stage. The proposed approach is based on the modality and confidence factors for the timing of manifestation and the severity of signs for each clinical form in certain age periods. To implement the proposed approach, a prototype of the ontological knowledge base was created, and its population was described in detail using the previously developed METEOR method.
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Лещева И. А., Благосклонов Н. А. Применение онтологического подхода к диагностике орфанных заболеваний // Системный анализ в проектировании и управлении: сборник научных трудов XXVI Международной научно-практической конференции, 13–14 октября 2022 года: [в 3 частях]. Ч. 2. — Санкт-Петербург: ПОЛИТЕХ-ПРЕСС, 2023. — С. 88–97.