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Alexandr Uciteli , Silvia Groß, Sergej Kireyev, Heinrich Herre

Explore ontological foundations for enhancing data quality and harmonization in clinical and epidemiological research, addressing the burdens of data collection and specification. Implement ISO standards efficiently with high-quality data definitions. Develop prototypes and bridge formal ontology with standards.

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Alexandr Uciteli , Silvia Groß, Sergej Kireyev, Heinrich Herre

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  1. An Ontologically Founded Basic Architecture for Information Systems in Clinical and Epidemiological Research Alexandr Uciteli, Silvia Groß, Sergej Kireyev, Heinrich Herre

  2. Introduction • Various clinical and epidemiological study projects • Large amounts of data to be collected in similar form • Significant expense for the specification of data collection • => The qualitatively high grade and proven data definitions (study items) are necessary

  3. ISO/IEC 11179: Purposes • Standard description of data • Common understanding of data across organizational elements and between organizations • Re-use and standardization of data over time, space, and applications • Harmonization and standardization of data within an organization and across organizations • Management of the components of data • Re-use of the components of data

  4. ISO/IEC 11179: Basic Elements

  5. Ontological Foundation of the ISO/IEC 11179 standard

  6. Categories in General Formal Ontology (GFO) Distinctive features of GFO • Ontology for categories • Different kinds of categories • Categories of higher order • Transitive categories

  7. Architecture of the MDR and the Metamodel

  8. Ontological analysis

  9. Ontological embedding of ISO standard in GFO (partial tree)

  10. Items and Phenotypes • The notion of phenotype is insufficiently established and founded • An ontological analysis of the notion of phenotype is needed • The relation between items and phenotypes must be investigated

  11. Implementation • Creating and managing of all fundamental concepts of the ISO standard • Some extensions of the standard were implemented • Graphical representation of the concepts • Simple concepts can be connected by suitable relations to complex ones

  12. Prototype (1)

  13. Prototype (2)

  14. Prototype (3)

  15. Prototype (4)

  16. Conclusion • The semantics of ISO standard is insufficiently developed. • => Methodology how to specify the semantics based on top-level ontology • => A bridge between the standard and the rigorous methods of formal ontology

  17. Promising open problems • Ontological analysis of the notions of complex concept and phenotype • Reasoning capabilities

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