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Genetika ; 29(10): 1733-40, 1993 Oct.
Article in Russian | MEDLINE | ID: mdl-8307362

ABSTRACT

Computer-based genetical register "GENREG" allows to carry out a prophylactic medical examination for families with children, having hereditary diseases, multifactorial pathology and congenital developmental defects of various nature, and also epidemiological examination. Automated consultative system for pre-laboratory diagnosis of genetically determined diseases after the phenotypical manifestations "DIAGEN" allows to identify up to 1200 nosologic units; diagnostic value (or weight) of the signs according to physician's evaluation is taken into consideration. The system sorts out a narrow differential-and-diagnostic row and information about specific laboratory and functional changes for every selected diagnosis. Efficiency of the system is over 94% (after the next laboratory findings). The results of computer diagnosis and final physician's diagnosis, and also questionnaire of a child are stored in archives (files) of the "DIAGEN" system. Both of the systems are realized on PC/AT IBM-compatible computer.


Subject(s)
Databases, Factual , Diagnosis, Computer-Assisted , Genetics, Medical , Registries , Child , Congenital Abnormalities/epidemiology , Congenital Abnormalities/etiology , Diagnosis, Differential , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/epidemiology , Humans , Phenotype
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