SNOMED CT Logic Profile Enhancement Yongsheng Gao, 2017/07/11

Requirements Key Features Anatomy Drug Substance Observables LOINC General content GCI (general concept inclusion) / multiple definitions Yes Transitive Object Property Maybe Reflexive Object Property Property Chain Data Property / concrete domains Disjointness Nesting

Benefits of Logic Profile Enhancement Increased efficiency, consistency, precision and quality of authoring through reduced manual effort to organise content Lower costs to author and maintain content through reduced manual effort A more complete and consistent product that is, as a consequence, more usable (for implementers and end users) and attractive (to drive adoption and implementation) Reduction in the cost of assessing the impact of modelling change, because changes also become systematically describable (and transformable). Simplification of content modelling by removing workaround Conforming to international standard, e.g. OWL , for better semantic interoperability to other standards and applications Explicitly specified logic profile for DL features available in SNOMED CT

Logic Profile, Representation and Impacts SNOMED CT Logic Profile is a subset of OWL 2 EL Concept logical definitions will be represented by a new OWL axiom reference set No or minimum changes to the existing release data files Potential impacts have been assessed Authoring tools DNF IHTSDO family of languages Subsumption Diagramming MRCM Implementations

Hidden GCI example Product containing timolol in eye drops form (clinical drug) ≡ Pharmaceutical / biologic product (product) Has manufactured dose form Eye drops Hidden GCI – Modeling for product role, e.g. Product containing timolol 0.5% eye drops (clinical drug) SubClassOf Anti glaucoma preparation (product) Has active ingredient Timolol ⊑ Anti glaucoma preparation (product)

Property Chain Property Chain – Drug containing substance or its modifications, e.g. |Has active ingredient| o |Modification of| SubPropertyOf |Has active ingredient|

Proposed Roadmap for Logic Profile by Releases Stage Release Stated relationship table Additional features Production OWL Refset Tech preview OWL refset 1 20170731 Source of truth Nil N/A Snapshot of stated rels 2 20180131 + GCI + Property Axioms 3 20180731 Partial source of truth First release of OWL refset, Source of truth? 4 20190131 Deprecated? Support all features in SNOMED CT logic profile Full, Snapshot and Delta of all content

Proposed changes in 2018 Using the OWL axiom refset as the source of true for stated relationships and the DL classification. Anyone who is using the stated relationship table and DL classification will need to handle the above changes. Potential UI changes to support the new DL features