This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

HGNC - json

Raw json

Narrative view of the Value Set

{
  "resourceType" : "ValueSet",
  "id" : "hgnc",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>HGNC</h2><div><p>This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the <code>code</code> and the HGNC 'gene symbol' as <code>display</code>. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error.</p>\n</div><p>This value set includes codes from the following code systems:</p><ul><li>Include all codes defined in <code>http://www.genenames.org/geneId</code></li><li>Include all codes defined in <code>http://www.genenames.org/genegroup</code></li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc",
  "version" : "1.0.0",
  "name" : "HGNC",
  "title" : "HGNC",
  "status" : "active",
  "experimental" : false,
  "date" : "2018-10-01T00:00:00-04:00",
  "publisher" : "HL7 (Clinical Genomics)",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://hl7.org/fhir"
        },
        {
          "system" : "email",
          "value" : "fhir@lists.hl7.org"
        }
      ]
    }
  ],
  "description" : "This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the `code` and the HGNC 'gene symbol' as `display`. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error.",
  "compose" : {
    "include" : [
      {
        "system" : "http://www.genenames.org/geneId"
      },
      {
        "system" : "http://www.genenames.org/genegroup"
      }
    ]
  }
}