ClinVar

{
  "description" : "NCBI central repository for curating pathogenicity of potentially clinically relevant variants",
  "compose" : {
    "exclude" : [ ],
    "include" : [ {
      "system" : "http://www.ncbi.nlm.nih.gov/clinvar"
    } ]
  },
  "meta" : {
    "lastUpdated" : "2022-05-28T12:47:40.239+10:00",
    "profile" : [ "http://hl7.org/fhir/StructureDefinition/shareablevalueset" ]
  },
  "publisher" : "HL7 International - FHIR-Infrastructure",
  "name" : "ClinVar",
  "experimental" : false,
  "resourceType" : "ValueSet",
  "extension" : [ {
    "valueCode" : "oo",
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"
  }, {
    "url" : "http://health-samurai.io/extensions/source",
    "valueCode" : "db"
  } ],
  "status" : "draft",
  "id" : "3145ef14-88b7-438a-81b0-789970855068",
  "url" : "http://hl7.org/fhir/ValueSet/clinvar",
  "identifier" : [ {
    "system" : "urn:ietf:rfc:3986",
    "value" : "urn:oid:2.16.840.1.113883.4.642.3.1041"
  } ],
  "version" : "4.3.0",
  "contact" : [ {
    "telecom" : [ {
      "system" : "url",
      "value" : "http://hl7.org/fhir"
    } ]
  } ],
  "text" : {
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <ul>\n              <li>Include all codes defined in \n                <a href=\"http://www.ncbi.nlm.nih.gov/clinvar\">\n                  <code>http://www.ncbi.nlm.nih.gov/clinvar</code>\n                </a>\n              </li>\n            </ul>\n          </div>",
    "status" : "generated"
  }
}