Experiences with Modeling Composite Phenotypes in the SKELETOME Project [chapter]

Tudor Groza, Andreas Zankl, Jane Hunter
2012 Lecture Notes in Computer Science  
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
more » ... of mapping concepts of this ontology to exact or broader terms in the main phenotype ontology used in the bone dysplasia domain.
doi:10.1007/978-3-642-35173-0_6 fatcat:kfkxbxoypfbplpftqlrhzycmqu