A system for automated diagnosis of hereditary diseases in children


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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. ARTICLE


PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Institute of Pediatrics and Child Surgery of the RSFSR Ministry of Health, Moscow, USSR Y E Veltishchev, L Z Kazantseva, B A Kobrinsky, A E


Feldman & E A Nikolaeva Authors * Y E Veltishchev View author publications You can also search for this author inPubMed Google Scholar * L Z Kazantseva View author publications You can


also search for this author inPubMed Google Scholar * B A Kobrinsky View author publications You can also search for this author inPubMed Google Scholar * A E Feldman View author


publications You can also search for this author inPubMed Google Scholar * E A Nikolaeva View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND


PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Issue Date: 01 November 1989 * DOI:


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