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HPO to SNOMED mapping - the objectives and results

The

objectives was to produce a mapping to a fully logically defined SNOMED target, so that if a direct map to a SNOMED concept was not available, an expression was constructed using Compositional Grammar and post-coordination. The map produced would then be used during configuration of healthcare systems or in an expression repository.

focus in 2024 was the production of post-coordinated expressions and the results were presented at the Expo in October 2024 and are documented here https://confluence.ihtsdotools.org/display/FT/SNOMED+CT+Expo+2024.

For 2025 the emphasis has moved back to "one to one" mapping, following the release of new SNOMED content which improves the mapping. Based on the HPO release up to December 2024  and the SNOMED International release up to April 2025

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Above is an illustration of the structure and components of an expression, including the focus concept, attributes and attribute value.

HPO to SNOMED Cross Mapping - the results

Based on the HPO release of August 2024, and the SNOMED International release of April 2024, the mapping results are given below.Note that 86% of the HPO terms are mappable either directly (42%) or by using an expression (7950, 45%) and the missing 13% could potentially be reduced with new SNOMED content.

The expressions have been validated using the Post-coordination Demonstrator resource. (Post-coordination Implementation Demo (ihtsdo.github.io))

and the direct mapping has increased to 47%.


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