Cqgc Implementation Guide
0.1.0 - CI Build

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: Ferlab.bio ValueSet/cgh-abnormalities - JSON Representation

Active as of 2025-08-01

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{
  "resourceType" : "ValueSet",
  "id" : "cgh-abnormalities",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet cgh-abnormalities</b></p><a name=\"cgh-abnormalities\"> </a><a name=\"hccgh-abnormalities\"> </a><ul><li>Include these codes as defined in <a href=\"CodeSystem-cgh-abnormalities.html\"><code>http://fhir.cqgc.ferlab.bio/CodeSystem/cgh-abnormalities</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td><a href=\"CodeSystem-cgh-abnormalities.html#cgh-abnormalities-CNV0\">CNV0</a></td><td>CNV that does not explain the phenotype</td><td>CNV qui n'explique pas le phénotype</td></tr><tr><td><a href=\"CodeSystem-cgh-abnormalities.html#cgh-abnormalities-CNV1\">CNV1</a></td><td>CNV that does explain the phenotype</td><td>CNV qui explique le phénotype</td></tr></table></li></ul></div>"
  },
  "url" : "http://fhir.cqgc.ferlab.bio/ValueSet/cgh-abnormalities",
  "version" : "0.1.0",
  "name" : "cgh-abnormalities",
  "title" : "CGH abnormalities",
  "status" : "active",
  "experimental" : false,
  "date" : "2025-08-01T14:30:53+00:00",
  "publisher" : "Ferlab.bio",
  "contact" : [
    {
      "name" : "Cqgc",
      "telecom" : [
        {
          "system" : "email",
          "value" : "mailto:support@ferlab.bio"
        }
      ]
    }
  ],
  "description" : "CGH abnormalities",
  "compose" : {
    "include" : [
      {
        "system" : "http://fhir.cqgc.ferlab.bio/CodeSystem/cgh-abnormalities",
        "concept" : [
          {
            "code" : "CNV0",
            "display" : "CNV that does not explain the phenotype",
            "designation" : [
              {
                "language" : "fr",
                "value" : "CNV qui n'explique pas le phénotype"
              }
            ]
          },
          {
            "code" : "CNV1",
            "display" : "CNV that does explain the phenotype",
            "designation" : [
              {
                "language" : "fr",
                "value" : "CNV qui explique le phénotype"
              }
            ]
          }
        ]
      }
    ]
  }
}