Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/cg-incubator/ValueSet/hgnc-vs | Version: 0.1.0-ci-build | ||||
| Standards status: Trial-use Active as of 2026-03-14 | Maturity Level: 1 | Computable Name: HGNCVS | |||
Copyright/Legal: HGNC data are freely available for academic and commercial use. See https://www.genenames.org/about/ |
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This value set includes all HGNC Codes, which includes multiple code systems. The preferred system URL is http://www.genenames.org per the HL7 Terminology (THO) NamingSystem definition (https://terminology.hl7.org/NamingSystem-v3-hgnc.html). Gene IDs are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the code and the HGNC 'gene symbol' as display. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. The genegroup code system is separately included to draw attention to this ambiguity and potential error.
References
This value set includes codes based on the following rules:
http://www.genenames.org version Not Stated (use latest from terminology server)http://www.genenames.org/genegroup version Not Stated (use latest from terminology server)
No Expansion for this valueset (Unknown Code System)