This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v2.1.0: 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

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ValueSet: Human Genome Variation Society Sequence Variant Nomenclature Value Set

Official URL: http://hl7.org/fhir/us/mcode/ValueSet/mcode-hgvs-vs				Version: 2.1.0
Active as of 2023-03-21				Computable Name: HGVSVS

HGVS nomenclature is used to report and exchange information regarding variants found in DNA, RNA, and protein sequences.

References

• Genomic Region Studied Profile
• Genomic Variant Profile

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