Terminology owner/maintenance organisation

Name, contact details, website		Human Genome Variation Society (HGVS)

Formal name of the code system

Sequence Variant Nomenclature

Short name or abbreviation of the code system name

HGVS
Technical identifier/s for the code system 

OID: 2.16.840.1.113883.6.282
Canonical URL:
URN:

Scope/domain statement for the code system

(Official or from HTA)

Genomic variations - HGCS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences.

Link to information about the code system - including how to obtain the content

https://www.hgvs.org

Arrangement or agreements with HL7 for use of content

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|

Version management - timing and identification of versionshttps://varnomen.hgvs.org/versioning/

IP Information and Licensing Information

HGVS nomenclatures can be used freely by the public.

HL7 users of this information - which HL7 products use this link (if known)

Genomics

Rare Diseases

Process to request content change

E-mail VarNomen@HGVS.org

Other useful Information


Information current as at (date)


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4 Comments

  1. Carmela A. Couderc

    Hi Julie James Is there a canonical url available for this code system? 

  2. Julie James

    Hi Carmela A. Couderc- this might be one that Davera Gabrielshould look at as I think it's in her domain area.  I haven't reached out to HGVS....if we have any contacts there, it would be good to leverage those (smile)

  3. Carmela A. Couderc

    Thanks Julie Jamesand Davera Gabriel.  My colleagues suggested contacting the co-chairs of the Genomics Work Group to see if they have any contacts at HGVS. Patrick Werner, Bob Milius, Robert Freimuth, James Jones, Kevin Power or Mullai Murugan.  Joel Schneider and Patrick Werner have been leading the work with HGVS. 

  4. Davera Gabriel

    I am working with the Phenopackets group on MONDO & HPO code systems at this time. I'm happy to make inquiries.