Knowledge-based diagnostic system for orphan diseases development


Kobrinsky B. Blagosklonov N.


The paper discusses the problems of early diagnosis of rare hereditary origin diseases in children, presents a brief description of previously created systems aimed at providing support for physician assistance in diagnosis. The prototype of an expert diagnostic system is presented, the knowledge which combines bibliographic data on clinical cases, the coefficients of modality of signs (based on expert evaluations) and certainty factors for manifestation and severity of signs over four age periods. Such an approach to the formation of a knowledge base allows improving the quality of differential diagnosis of a rare pathology at an early age in order to start treatment on time to prevent the development of pathological manifestations caused by the accumulation of macromolecules in organs and tissues.

External links

DOI: 10.37690/1811-0193-2019-4-72-78

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Reference link

Blagosklonov N. A., Kobrinskii B. A. Knowledge-based diagnostic system for orphan diseases development // Physician and IT, 2019. № 4. Pp. 72-78.