Abstract
Since diagnosis of dysmorphic syndromes is a domain with incomplete knowledge where even experts have seen only few syndromes themselves during their lifetime, documentation of cases and the use of case-oriented techniques are popular. In dysmorphic systems, diagnosis usually is performed as a classification task, where a prototypicality measure is applied to determine the most probable syndrome. Our approach additionally applies adaptation rules. These rules do not only consider single symptoms but combinations of them, which indicate high or low probabilities of specific syndromes.
Paper domain: Decision support systems
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Waligora, T., Schmidt, R. (2004). Case-Based Diagnosis of Dysmorphic Syndromes. In: Barreiro, J.M., MartÃn-Sánchez, F., Maojo, V., Sanz, F. (eds) Biological and Medical Data Analysis. ISBMDA 2004. Lecture Notes in Computer Science, vol 3337. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-30547-7_9
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DOI: https://doi.org/10.1007/978-3-540-30547-7_9
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