Experiences with modeling composite phenotypes in the SKELETOME project

Abstract

Semantic annotation of patient data in the skeletal dysplasia domain (e.g., clinical summaries) is a challenging process due to the structural and lexical differences existing between the terms used to describe radiographic findings. In this paper we propose an ontology aimed at representing the intrinsic structure of such radiographic findings in a standard manner, in order to bridge the different lexical variations of the actual terms. Furthermore, we describe and evaluate an algorithm capable of mapping concepts of this ontology to exact or broader terms in the main phenotype ontology used in the bone dysplasia domain. © 2012 Springer-Verlag Berlin Heidelberg.