Objective: To explore how disease-related causality is formally represented in current ontologies and identify their potential limitations.
Methods: We conducted a systematic literature search on eight databases (PubMed, Institute of Electrical and Electronic Engendering (IEEE Xplore), Association for Computing Machinery (ACM), Scopus, Web of Science databases, Ontobee, OBO Foundry, and Bioportal. We included studies published between January 1, 1970, and December 9, 2020, that formally represent the notions of causality and causation in the medical domain using ontology as a representational tool. Further inclusion criteria were publication in English and peer-reviewed journals or conference proceedings. Two authors (SS, RM) independently assessed study quality and performed content analysis using a modified validated extraction grid with pre-established categorization.
Results: The search strategy led to a total of 8,501 potentially relevant papers, of which 50 met the inclusion criteria. Only 14 out of 50 (28%) specified the nature of causation, and only 7 (14%) included clear and non-circular natural language definitions. Although several theories of causality were mentioned, none of the articles offers a widely accepted conceptualization of how causation and causality can be formally represented.
Conclusion: No current ontology captures the wealth of available concepts of causality. This provides an opportunity for the development of a formal ontology of causation/causality.
Keywords: causality; causation; knowledge representation; ontology.
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