NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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ConceptMap: GMS WGS Guide HPO Terms to SNOMED CT (Experimental)

Official URL: https://fhir.nwgenomics.nhs.uk/ConceptMap/GMSWGSGuideHPOTermsToSCT				Version: 2.2.0	Highlight text changes?
Draft as of 2026-09-20					Computable Name: GMSWGSGuideHPOTermsToSCT

HPO (Human Phenotype Ontology) to SNOMED CT mapping for the 38 terms in GMSWGSGuideHPOTermsVS - see Questionnaire-GMSWGSRareDisease's NOS/HPOTerm item.

Built against the Genomics England terminology server (https://re-docs.genomicsengland.co.uk/terminology_server/, https://ontoserver.aws.gel.ac/fhir), HPO release 20191108. That server only publishes a SNOMED CT to HPO ConceptMap (sct-to-hpo) by name, but does support querying it in the HPO-to-SNOMED direction directly via ConceptMap/sct-to-hpo/$translate?...&reverse=true - see nw-gmsa/Testing notebook 13, which uses the same server and surfaced this parameter. An initial pass of this ConceptMap missed that: it instead found a candidate SNOMED CT concept for each HPO term (ValueSet/$expand free-text search under the Clinical finding (404684003) subtree) and forward-verified it through ConceptMap/sct-to-hpo/$translate in the SNOMED-to-HPO direction - which undercounted, since a genuinely-mapped HPO term can have a mapped SNOMED code that isn't the one a text search happens to surface (e.g. Cataract is mapped, to SNOMED 128306009, not the 193570009 a plain text search returns first). This version instead queries reverse=true directly for every HPO code, with the equivalence value taken directly from that server response (equivalent in every case found).

27 of the 38 terms resolved this way; the remaining 11 do not appear in the server's sct-to-hpo map even via reverse=true - so these are genuinely absent from the server's curated map, not an artefact of the search methodology. Rather than assert an unverified equivalence, unresolved terms are recorded below with equivalence = unmatched and no target code.