Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

ValueSet: HUGO Gene Nomenclature Committee Gene Names (HGNC)

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Version:2.0.0
Name:HGNCVS
Title:HUGO Gene Nomenclature Committee Gene Names (HGNC)
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

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.

Publisher:HL7 Clinical Genomics Working Group
Source Resource:XML / JSON / Turtle

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

  • Include all codes defined in http://www.genenames.org/geneId
  • Include all codes defined in http://www.genenames.org/genegroup

 

Expansion

No Expansion for this valueset (Unknown Code System)

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
Source 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