Congenital Heart Disease: An Ontology-Based Approach for the Examination of the Cardiovascular System

Congenital Heart Disease (CHD) represents the most common group of congenital malformations of the heart and of its blood vessels. In this paper, we present an ontology-based approach to detect abnormalities and malformations due to CHD. In particular, we propose a formal and well-defined model to represent the anatomy of the cardiovascular system, based on the SNOMED vocabulary. The model defines either the anatomy of the cardiovascular system in normal patients or the anatomy characterized by malformations and abnormalities in CHD patients. We have formalized this model in OWL ontologies and SWRL rules and, then, we have used a logic reasoner to identify either CHD patients or the heart abnormalities and malformations they are affected by.