HL7 Terminology
1.0.0 - Publication

This page is part of the HL7 Terminology (v1.0.0: Release) based on FHIR R4. The current version which supercedes this version is 5.2.0. For a full list of available versions, see the Directory of published versions

Human Genome Variation Society nomenclature

Summary

Defining URL:http://varnomen.hgvs.org
Version:2.0.0
Name:Hgvs
Title:Human Genome Variation Society nomenclature
Status:Active
Content:None of the concepts defined by the code system are included in the code system resource
Definition:

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.

Publisher:Human Genome Variation Society
OID:2.16.840.1.113883.6.282 (for OID based terminology systems)
Content Mode:Not Present
Source Resource:XML / JSON / Turtle

This Code system is referenced in the content logical definition of the following value sets:

This CodeSystem is not used here; it may be used elsewhere

Human Genome Variation Society nomenclature

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.

This code system http://varnomen.hgvs.org defines many codes, but they are not represented here