The paper describes the principles of creating a computer consultative decision support system for the diagnosis of hereditary diseases at the pre-laboratory stage. The prototype is implemented on the example of the clinical manifestations of lysosomal storage diseases. The system is based on literary data, which are accompanied by expert assessments. The developed intellectual system forms a limited differential diagnostic row of hypotheses. It provides assistance to the geneticist in differential diagnosis both in the presence of a preliminary diagnosis and in the absence of assumptions about the nosology of the disease.
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Kobrinskii B. A., Blagosklonov N. A., Demikova N. S. System for computer diagnosis of hereditary diseases. Medical genetics. 2020; 19(8): 9-11 (In Rus)