Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 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

: Functional Effect - JSON Representation

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{
  "resourceType" : "ValueSet",
  "id" : "functional-effect",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include codes from <a href=\"http://sequenceontology.org\"><code>http://sequenceontology.org</code></a> where concept  is-a  SO:0001536</li></ul></div>"
  },
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-effect",
  "version" : "1.1.0",
  "name" : "FunctionalEffectVS",
  "title" : "Functional Effect",
  "status" : "active",
  "date" : "2021-04-13T19:13:37+00:00",
  "publisher" : "HL7 International Clinical Genomics Work Group",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description" : "The effect of a variant on downstream biological products or pathways.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "http://sequenceontology.org",
        "filter" : [
          {
            "property" : "concept",
            "op" : "is-a",
            "value" : "SO:0001536"
          }
        ]
      }
    ]
  }
}