Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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

• Narrative Content
• XML
• JSON
• TTL

ValueSet: Human Genome Variation Society (HGVS) Nomenclature

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs				Version: 3.0.0
Active as of 2024-11-19				Computable Name: HGVSVS

HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. (source: varnomen.hgvs.org)

References

• Molecular Consequence
• Variant

Logical Definition (CLD)

 

Expansion

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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