Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Molecular Consequence Value Set - JSON Representation

Active as of 2024-12-12

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{
  "resourceType" : "ValueSet",
  "id" : "molecular-consequence-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet molecular-consequence-vs</b></p><a name=\"molecular-consequence-vs\"> </a><a name=\"hcmolecular-consequence-vs\"> </a><a name=\"molecular-consequence-vs-en-US\"> </a><ul><li>Include codes from<a href=\"http://terminology.hl7.org/6.1.0/CodeSystem-SO.html\"><code>http://www.sequenceontology.org</code></a> where concept  is-a SO:0001537</li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs",
  "version" : "3.0.0",
  "name" : "MolecularConsequenceVS",
  "title" : "Molecular Consequence Value Set",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-12-12T21:16:09+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "http://www.sequenceontology.org",
        "filter" : [
          {
            "property" : "concept",
            "op" : "is-a",
            "value" : "SO:0001537"
          }
        ]
      }
    ]
  }
}