A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement

Ontology development is a multidisciplinary work involving domain experts and knowledge engineers. Bringing together such a team to develop an ontology of quality is not easy. Therefore, ontologies are often created with limited expertise either in the medical domain or in ontology engineering. Unfortunately, the existing methodologies do not provide much guidance on how the different steps of ontology development should be performed, particularly in the case of reduced involvement of domain experts. This challenge is getting more difficult when there is a multitude of medical knowledge sources and ontologies covering parts of the domain, and often, each has a different representation of the same concept, for example, as a symptom, disease, or clinical sign. This research presents a methodology for creating a medical ontology of quality with limited involvement of the domain experts. The latter are only consulted in the domain definition and evaluation phases. We combine building an ontology from codified knowledge and ontology reuse to enhance reusability and interoperability. The methodology is inspired by METHONTOLOGY, for which we make several improvements, especially in the ontology reuse phase. We provide proof of concept of the proposed methodology with a case study involving the development of the pneumonia diagnosis ontology (PNADO).