HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1
1.0.0 - STU1

This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (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

ClinVar Value Set - JSON Representation

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{
  "resourceType" : "ValueSet",
  "id" : "mcode-clinvar-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>ClinVar Value Set</h2><div><p>Value set of human genetic variants, drawn from <a href=\"https://www.ncbi.nlm.nih.gov/clinvar/\">ClinVar</a>. The codes in this value set refer to the ClinVar Variation ID, or the identifier for the variant or set of variants that were interpreted. <a href=\"https://www.ncbi.nlm.nih.gov/projects/clinvar/ClinVarDataDictionary.pdf\">Source: NCBI ClinVar Data Dictionary</a></p>\n</div><ul><li>Include all codes defined in <a href=\"http://www.ncbi.nlm.nih.gov/clinvar\"><code>http://www.ncbi.nlm.nih.gov/clinvar</code></a></li></ul></div>"
  },
  "url" : "http://hl7.org/fhir/us/mcode/ValueSet/mcode-clinvar-vs",
  "version" : "1.0.0",
  "name" : "ClinVarVS",
  "title" : "ClinVar Value Set",
  "status" : "active",
  "date" : "2020-03-18T15:32:10+00:00",
  "publisher" : "HL7 International Clinical Interoperability Council",
  "contact" : [
    {
      "name" : "HL7 International Clinical Interoperability Council",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/cic"
        },
        {
          "system" : "email",
          "value" : "ciclist@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Value set of human genetic variants, drawn from [ClinVar](https://www.ncbi.nlm.nih.gov/clinvar/). The codes in this value set refer to the ClinVar Variation ID, or the identifier for the variant or set of variants that were interpreted. [Source: NCBI ClinVar Data Dictionary](https://www.ncbi.nlm.nih.gov/projects/clinvar/ClinVarDataDictionary.pdf)",
  "compose" : {
    "include" : [
      {
        "system" : "http://www.ncbi.nlm.nih.gov/clinvar"
      }
    ]
  }
}