Using ontologies and semantic web technology on a clinical pedigree information system

Abstract

Clinical family histories, in the form of clinical pedigrees, are recognized as valuable tools in the diagnostic, risk assessment and treatment of patients and their family members. The lack of adequate tools in present health information systems (HIS) is one of the factors that currently deter practitioners from making full use of these tools. In this paper we present OntoFam, an ontology-based clinical pedigree information system that can be integrated with existing HIS. We focus on the usage of ontologies and semantic web technology in the context of this information system and present a practical scenario of integration with hemo@care, a HIS designed for hemophilia care. © 2014 Springer International Publishing Switzerland.