This page is part of the Genetic Reporting Implementation Guide (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

VariantInheritance - json

Raw json

Narrative view of the Value Set

{
  "resourceType" : "ValueSet",
  "id" : "variant-inheritance",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>Variant Inheritance</h2><div><p>A quality inhering in a variant by virtue of its origin.</p>\n</div><p>This value set includes codes from the following code systems:</p><ul><li>Include codes from <a href=\"http://sequenceontology.org\"><code>http://sequenceontology.org</code></a> where concept  descends from  SO:0001762</li><li>Include these codes as defined in <a href=\"https://hl7.org/fhir/codesystem-data-absent-reason.html\"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://hl7.org/fhir/codesystem-data-absent-reason.html#data-absent-reason-asked-unknown\">asked-unknown</a></td><td>Don't know</td><td>The source was asked but does not know the value.</td></tr></table></li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance",
  "version" : "1.0.0",
  "name" : "VariantInheritance",
  "title" : "Variant Inheritance",
  "status" : "active",
  "experimental" : false,
  "date" : "2019-09-25T00:00:00-04:00",
  "publisher" : "HL7 (Clinical Genomics)",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "other",
          "value" : "https://confluence.hl7.org/display/CGW/WorkGroup+Home"
        }
      ]
    }
  ],
  "description" : "A quality inhering in a variant by virtue of its origin.",
  "compose" : {
    "include" : [
      {
        "system" : "http://sequenceontology.org",
        "filter" : [
          {
            "property" : "concept",
            "op" : "descendent-of",
            "value" : "SO:0001762"
          }
        ]
      },
      {
        "system" : "http://terminology.hl7.org/CodeSystem/data-absent-reason",
        "concept" : [
          {
            "code" : "asked-unknown",
            "display" : "Don't know"
          }
        ]
      }
    ]
  }
}