XIG: NamingSystem/HGNCGeneGroup

FHIR IG Statistics: NamingSystem/HGNCGeneGroup

Package	hl7.terminology.r4b
Type	NamingSystem
Id	HGNCGeneGroup
FHIR Version	R4B
Source	http://terminology.hl7.org/http://terminology.hl7.org/6.0.2/NamingSystem-HGNCGeneGroup.html
URL	http://terminology.hl7.org/NamingSystem/HGNCGeneGroup
Version	1.0.0
Status	active
Date	2024-07-21T00:36:31-06:00
Name	HGNCGeneGroup
Title	HUGO Gene Nomenclature Committee Gene Group
Realm	uv
Authority	hl7
Description	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](https://www.genenames.org/tools/search), 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. Please see https://www.genenames.org/ for more info.
Kind	codesystem

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: NamingSystem HGNCGeneGroup

Summary

Defining URL

http://terminology.hl7.org/NamingSystem/HGNCGeneGroup

Version

1.0.0

Name

HGNCGeneGroup

Title

HUGO Gene Nomenclature Committee Gene Group

Status

active

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

Publisher

HUGO Gene Nomenclature Committee

Identifiers

Type

Value

Preferred

Period

Comment

URI

http://www.genenames.org/genegroup

true

2022-08-25 --> (ongoing)

This is the URL as specified by the terminology owner, and is considered authoritative.

Source

{
  "resourceType": "NamingSystem",
  "id": "HGNCGeneGroup",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url",
      "valueUri": "http://terminology.hl7.org/NamingSystem/HGNCGeneGroup"
    },
    {
      "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.version",
      "valueString": "1.0.0"
    },
    {
      "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.title",
      "valueString": "HUGO Gene Nomenclature Committee Gene Group"
    }
  ],
  "name": "HGNCGeneGroup",
  "status": "active",
  "kind": "codesystem",
  "date": "2024-07-21T00:36:31-06:00",
  "publisher": "HUGO Gene Nomenclature Committee",
  "contact": [
    {
      "name": "HUGO Gene Nomenclature Committee",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.genenames.org/"
        },
        {
          "system": "email",
          "value": "hgnc@genenames.org"
        }
      ]
    }
  ],
  "responsible": "HUGO Gene Nomenclature Committee",
  "description": "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.\r\n\r\nFor 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](https://www.genenames.org/tools/search), 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. Please see https://www.genenames.org/ for more info.",
  "uniqueId": [
    {
      "type": "uri",
      "value": "http://www.genenames.org/genegroup",
      "preferred": true,
      "comment": "This is the URL as specified by the terminology owner, and is considered authoritative.",
      "period": {
        "start": "2022-08-25"
      }
    }
  ]
}