Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## ValueSet: HUGO Gene Nomenclature Committee Gene Names (HGNC)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs | Version: 4.0.0-cibuild
Standards status: Trial-use | Maturity Level: 2 | Computable Name: HGNCVS

This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC 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. We have separately included the genegroup code system to draw attention to this ambiguity and potential error.

References

- Genomic Finding
- Genomic Study Analysis Regions
- Molecular Biomarker

### Logical Definition (CLD)

This value set includes codes based on the following rules:

- Include all codes defined in `http://www.genenames.org` version Not Stated (use latest from terminology server)
- Include all codes defined in `http://www.genenames.org/genegroup` version Not Stated (use latest from terminology server)

### Expansion

No Expansion for this valueset (not supported by Publication Tooling)

Explanation of the columns that may appear on this page:

Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System | The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code | The code (used as the code in the resource instance)
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition | An explanation of the meaning of the concept
Comments | Additional notes about how to use the code