HL7 Terminology (THO)
7.0.0 - publication International flag

HL7 Terminology (THO), published by HL7 International - Vocabulary Work Group. This guide is not an authorized publication; it is the continuous build for version 7.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

Human Genome Variation Society nomenclature Metadata Record

Metadata Record Information Version 20251031
Maintained By HL7 Terminology Services Management Group (TSMG)
Last Updated Date 31 October 2025
Responsible Organizations Human Genome Organization (HUGO) Roles
  • Code System Owner
  • Code System Maintainer (Steward)
  • Code System Publisher
Website https://www.hugo-international.org/
Email address —
Phone number —
Address —
Code System Names Formal name Human Genome Variation Society nomenclature
Short name —
Code System Technical Identifiers Identification Record
TSMG-endorsed URI http://varnomen.hgvs.org
TSMG-endorsed OID 2.16.840.1.113883.6.282
Code System Information Links —
Description
HGVS nomenclatures are the guidelines for mutation nomenclature made by the Human Genome Variation Society. HGVS nomenclature can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type should be able to distinguish expressions in HGVS nomenclature from coded concepts. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, HGVS nomenclature can be used to as the observation values for DNA sequence variations. For example, OBX|1|CWE|48004-6^DNA Sequence Variation^LN||c.1129C>T^^HGVS| Versioning information: The HGVS nomenclature for the description of sequence variants was last modified Feb 20, 2008. The HGVS nomenclature for the description of protein sequence variants was last modified May 12, 2007. The HGVS nomenclature for the description of DNA sequence variants was last modified June 15, 2007 The HGVS nomenclature for the description of RNA sequence variants was last modified May 12, 2007 HGVS nomenclatures can be used freely by the public.
Arrangements or agreements with HL7 for use of content — —
Version management Version information
—
Code System Copyright, Intellectual Property and Licensing Copyright Statement
—
Copyright Information
—
Intellectual Property Information
—
Licensing Information
—