Diagnosis of Dysmorphic Syndromes

Since diagnosis of dysmorphic syndromes is a domain with incomplete knowledge and 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 system 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.

• Type: Conference
• Year: 2004
• Where: LWA
• Authors: Tina Waligora, Rainer Schmidt
• Keywords: Dysmorphic Syndromes, Dysmorphic Systems, Incomplete Knowledge, LWA 2004, LWA 2007