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Intégration de connaissances biomédicales hétérogènes grâce à un modèle basé sur les ontologies de support

Abstract : In the biomedical domain, there are almost as many knowledge resources in health as there are application fields. These knowledge resources, described according to different representation models and for different contexts of use, raise the problem of complexity of their interoperability, especially for actual public health problematics such as personalized medicine, translational medicine and the secondary use of medical data. Indeed, these knowledge resources may represent the same notion in different ways or represent different but complementary notions.For being able to use knowledge resources jointly, we studied three processes that can overcome semantic conflicts (difficulties encountered when relating distinct knowledge resources): the alignment, the integration and the semantic enrichment of the integration. The alignment consists in creating a set of equivalence or subsumption mappings between entities from knowledge resources. The integration aims not only to find mappings but also to organize all knowledge resources’ entities into a unique and coherent structure. Finally, the semantic enrichment of integration consists in finding all the required mapping relations between entities of distinct knowledge resources (equivalence, subsumption, transversal and, failing that, disjunction relations).In this frame, we firstly realized the alignment of laboratory tests terminologies: LOINC and the local terminology of Bordeaux hospital. We pre-processed the noisy labels of the local terminology to reduce the risk of naming conflicts. Then, we suppressed erroneous mappings (confounding conflicts) using the structure of LOINC.Secondly, we integrated RxNorm to SNOMED CT. We constructed formal definitions for each entity in RxNorm by using their definitional features (active ingredient, strength, dose form, etc.) according to the design patterns proposed by SNOMED CT. We then integrated the constructed definitions into SNOMED CT. The obtained structure was classified and the inferred equivalences generated between RxNorm and SNOMED CT were compared to morphosyntactic mappings. Our process resolved some cases of naming conflicts but was confronted to confounding and scaling conflicts, which highlights the need for improving RxNorm and SNOMED CT.Finally, we performed a semantically enriched integration of ICD-10 and ICD-O3 using SNOMED CT as support. As ICD-10 describes diagnoses and ICD-O3 describes this notion according to two different axes (i.e., histological lesions and anatomical structures), we used the SNOMED CT structure to identify transversal relations between their entities (resolution of open conflicts). During the process, the structure of the SNOMED CT was also used to suppress erroneous mappings (naming and confusion conflicts) and disambiguate multiple mappings (scale conflicts).
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Jean Nikiema. Intégration de connaissances biomédicales hétérogènes grâce à un modèle basé sur les ontologies de support. Médecine humaine et pathologie. Université de Bordeaux, 2019. Français. ⟨NNT : 2019BORD0179⟩. ⟨tel-02352182⟩

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