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 5.1.3). This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

NamingSystem:

Official URL: http://terminology.hl7.org/NamingSystem/v3-hgnc Version: 3.0.0
Active as of 2023-05-11 Responsible: HUGO Gene Nomenclature Committee Computable Name: HGNCGenes

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.

Summary

Defining URLhttp://terminology.hl7.org/NamingSystem/v3-hgnc
Version3.0.0
NameHGNCGenes
TitleHUGO Gene Nomenclature Committee Genes
Statusactive
Definition

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.

PublisherHUGO Gene Nomenclature Committee

Identifiers

TypeValuePreferredPeriodComment
URIhttp://www.genenames.orgtrue2022-08-25 --> (ongoing)This is the URL as specified by the terminology owner, and is considered authoritative.
URIhttp://www.genenames.org/geneIdfalse
OID2.16.840.1.113883.6.281true

History

DateActionAuthorCustodianComment
2022-09-02reviseJessica BotaHTAAdd HGNC Code Systems per HTA; up-341
2020-10-09reviseReuben DanielsVocabulary WGFixed title extension URL to be consistent with latest Publisher