Diagnosing human malformation patterns with a microcomputer: evaluation of two different algorithms

American Journal of Medical Genetics
D Schorderet

Abstract

SYNDROC, a microcomputer-aided differential diagnostic approach to human malformation patterns, is based on a pseudo-Bayesian algorithm. This means that, for each sign, the frequency of this sign in the general population, its frequency in a particular syndrome, and the frequency of that particular syndrome have to be determined. These parameters are easy to find in common syndromes but tend to be difficult for rare or isolated cases. Thus, we implemented a new algorithm called the "descriptive algorithm," which defines a diagnosis by a set of anomalies all having the same weight. To test this algorithm, we analyzed 100 cases representing 100 different syndromes out of the register of the Division of Medical Genetics, Children's Hospital and Medical Center, University of Washington. The descriptive algorithm was allowed to give 3 sets of diagnoses. In 91% of the cases, this algorithm proposed the correct diagnosis (54% in the first window, 28% in the second window, and 9% in the third window). The number of diagnoses proposed was 18.78 +/- 16.57. The same cases were analyzed with the pseudo-Bayesian algorithm. The concordant diagnosis was proposed in 92% of the cases (55% at the top place, 11% at the second place, and 26% at th...Continue Reading

References

Feb 1, 1986·Computers and Biomedical Research, an International Journal·K P Adlassnig, G Kolarz
Mar 1, 1985·Archives of Disease in Childhood·D Schorderet, P Aebischer
Apr 1, 1972·British Medical Journal·F T de DombalJ C Horrocks
Dec 1, 1981·American Journal of Diseases of Children·G W Brown
Aug 19, 1982·The New England Journal of Medicine·R A MillerJ D Myers
Jul 22, 1961·JAMA : the Journal of the American Medical Association·H R WARNERR STEPHENSON

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Citations

Oct 4, 2011·Journal of Medical Systems·Kavishwar B WagholikarAshok W Deshpande
May 27, 2004·The Journal of Dermatology·Varol Lütfü AksungurSeydo Homan
Jun 1, 1991·American Journal of Medical Genetics·D F Schorderet

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