HL7 Terminology (THO)
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HL7 Terminology (THO), published by HL7 International - Vocabulary Work Group. This is not an authorized publication; it is the continuous build for version 5.0.0). This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

CodeSystem: HUGO Gene Nomenclature Committee Genes

Official URL: http://www.genenames.org Version: 3.0.0
Active as of 2022-08-25 Responsible: HUGO Gene Nomenclature Committee Computable Name: HGNCGenes
Other Identifiers: id: urn:oid:2.16.840.1.113883.6.281

Copyright/Legal: It is a condition of HGNC funding from NIH and the Welcome Trust that the nomenclature and information provided is freely available to all. Anyone may use the HGNC data, but we request that they reference the “HUGO Gene Nomenclature Committee at the European Bioinformatics Institute” and the website where possible.

The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication.

For each known human gene we approve a gene name and symbol (short-form abbreviation). All approved symbols are stored in the HGNC database,www.genenames.org, a curated online repository of HGNC-approved gene nomenclature, gene groups and associated resources including links to genomic, proteomic and phenotypic information. Each symbol is unique and we ensure that each gene is only given one approved gene symbol. It is necessary to provide a unique symbol for each gene so that we and others can talk about them, and this also facilitates electronic data retrieval from publications and databases.

HGNC gene symbols can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model Implementation Guide, HGNC gene symbols can be used to as the observation values for gene identifiers. For example, OBX 1 CWE 48018-6^Gene identifier^   BRCA1^HGNC

Versioning Information: The version of the HGNC database is reported using the last updated date and timestamp. The last updated date and timestamp is posted on the main HGNC Search screen in the format like “Monday March 30 23:00:56 2009”.

HGNC is updated daily.

HGNC is a free database for the public.

Please see https://www.genenames.org/ for more info.

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

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


History

DateActionAuthorCustodianComment
2022-09-02reviseJessica BotaHTAAdd HGNC Code Systems per HTA; up-341
2022-07-22reviseJessica BotaTSMGAdd default value of TRUE for code systems missing caseSensitive element unless otherwise specified; UP-322