Abstract
A computer consultation service has been made at this institute to provide differential diagnoses of multiple hereditary diseases in children, including rare syndromes. Formal descriptions were obtained for 1200 monogenic and chromosomal disease entities. Symptomatology was classified into obligatory, major and minor. The descriptions specify time of onset, mode of inheritance, biochemistry of disease. Mathematically, the system was “precedence”-based. A diagnosis required inputs like disease description, symptom pattern, retrieval specifications (direct retrieval, denial, both). The system employs a IBM-370 computer with software in /1(O) language. Remote terminal interaction was obtained by using distant telephone transmission of data. A clinical trial demonstrated the efficacy of the automated information diagnostic system and its usefulness in pre-laboratory identification of disease through its phenotype.
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Veltishchev, Y., Kazantseva, L., Kobrinsky, B. et al. A SYSTEM FOR AUTOMATED DIAGNOSIS OF HEREDITARY DISEASES IN CHILDREN. Pediatr Res 26, 516 (1989). https://doi.org/10.1203/00006450-198911000-00099
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DOI: https://doi.org/10.1203/00006450-198911000-00099