An ontological modeling approach for abnormal states and its application in the medical domain

Background: Recently, exchanging data and information has become a significant challenge in medicine. Such data include abnormal states. Establishing a unified representation framework of abnormal states can be a difficult task because of the diverse and heterogeneous nature of these states. Furthermore, in the definition of diseases found in several textbooks or dictionaries, abnormal states are not directly associated with the corresponding quantitative values of clinical test data, making the processing of such data by computers difficult. Results: We focused on abnormal states in the definition of diseases and proposed a unified form to describe an abnormal state as a property, which can be decomposed into an attribute and a value in a qualitative representation. We have developed a three-layer ontological model of abnormal states from the generic to disease-specific level. By developing an is-a hierarchy and combining causal chains of diseases, 21,000 abnormal states from 6000 diseases have been captured as generic causal relations and commonalities have been found among diseases across 13 medical departments. Conclusions: Our results showed that our representation framework promotes interoperability and flexibility of the quantitative raw data, qualitative information, and generic/conceptual knowledge of abnormal states. In addition, the results showed that our ontological model have found commonalities in abnormal states among diseases across 13 medical departments.