Computerized classification of congenital malformations using a modified Bayesian approach. 1987

F Wiener, and M Gabbai, and M Jaffe
Faculty of Medicine, Technion, Israel Institute of Technology, Haifa.

The diagnostic classification of children with dysmorphic features involves over 200 syndromes and 232 findings, with an average of about 15 findings per syndrome. A knowledge base expressed in terms of Boolean combinations of findings is impractical. The normal Bayesian method requires a very large incidence matrix with the vast majority of cells being zero. A modified Bayesian method is proposed in which each syndrome is described in terms of its associated findings, whose incidence P (S/D) are designated as essential (0.90), prevalent (0.90), occasional (0.70) or rare (0.15), whilst P(S/-D) ranged from (0.08) to (0.10). The Bayesian calculation determines the probability of the presence P(D/S) or the absence P(-D/S) of each syndrome. The differential diagnosis consisted of all syndromes whose presence has a probability greater than 0.85. One hundred and thirty-one cases from the Hanna Khoushi Developmental Pediatrics Center at Haifa's Rothschild Hospital were considered. Of the 42 cases for which the center's specialists reached a diagnosis, the system listed the correct diagnosis for 91%. The system reached a diagnosis in about half of the remaining 89 cases. The medical literature is arranged by syndrome whilst the computer allows a case by case approach, thereby avoiding the need for the physician to consider each syndrome to see if it fits his case. This study shows that our modified Bayesian analysis is a valid method for shortening the physician's search in an area of great diagnostic complexity.

UI MeSH Term Description Entries
D011336 Probability The study of chance processes or the relative frequency characterizing a chance process. Probabilities
D003936 Diagnosis, Computer-Assisted Application of computer programs designed to assist the physician in solving a diagnostic problem. Computer-Assisted Diagnosis,Computer Assisted Diagnosis,Computer-Assisted Diagnoses,Diagnoses, Computer-Assisted,Diagnosis, Computer Assisted
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013 Congenital Abnormalities Malformations of organs or body parts during development in utero. Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal
D001499 Bayes Theorem A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result. Bayesian Analysis,Bayesian Estimation,Bayesian Forecast,Bayesian Method,Bayesian Prediction,Analysis, Bayesian,Bayesian Approach,Approach, Bayesian,Approachs, Bayesian,Bayesian Approachs,Estimation, Bayesian,Forecast, Bayesian,Method, Bayesian,Prediction, Bayesian,Theorem, Bayes
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

Related Publications

F Wiener, and M Gabbai, and M Jaffe
May 2012, Gynecological surgery,
F Wiener, and M Gabbai, and M Jaffe
July 1976, The Journal of hand surgery,
F Wiener, and M Gabbai, and M Jaffe
December 1998, Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica,
F Wiener, and M Gabbai, and M Jaffe
January 1959, Boletin medico del Hospital Infantil de Mexico,
F Wiener, and M Gabbai, and M Jaffe
November 2012, Journal of vascular surgery,
F Wiener, and M Gabbai, and M Jaffe
January 2023, Sensors (Basel, Switzerland),
F Wiener, and M Gabbai, and M Jaffe
January 2019, PeerJ. Computer science,
F Wiener, and M Gabbai, and M Jaffe
July 2023, Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference,
Copied contents to your clipboard!