v3-hgvs
type: CodeSystem
node role: treeRoot
id:
  v: v3-hgvs
text:
  status:
    v: generated
  div:
    v: Generated Narrative: CodeSystem v3-hgvs This case-sensitive code system http://varnomen.hgvs.org defines codes, but no codes are represented here
url:
  v: http://varnomen.hgvs.org
  l: varnomen.hgvs.org
identifier:
  system:
    v: urn:ietf:rfc:3986
    l: 3986
  value:
    v: urn:oid:2.16.840.1.113883.6.282
version:
  v: 2.0.1
name:
  v: Hgvs
title:
  v: Human Genome Variation Society nomenclature
status:
  v: active
experimental:
  v: false
date:
  v: 2019-03-20T00:00:00-04:00
publisher:
  v: Human Genome Variation Society
description:
  v: 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.
case sensitive:
  v: true
content:
  v: not-present