Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Variant Inheritances - JSON Representation

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{
  "resourceType" : "ValueSet",
  "id" : "variant-inheritance-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</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=\"http://details.loinc.org/LOINC/LA26320-4.html\">LA26320-4</a></td><td>Maternal</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA26321-2.html\">LA26321-2</a></td><td>Paternal</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA4489-6.html\">LA4489-6</a></td><td>Unknown</td></tr></table></li></ul></div>"
  },
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs",
  "version" : "2.0.0",
  "name" : "VariantInheritanceVS",
  "title" : "Variant Inheritances",
  "status" : "active",
  "date" : "2022-05-09T16:59:16+00:00",
  "publisher" : "HL7 Clinical Genomics Working Group",
  "contact" : [
    {
      "name" : "HL7 Clinical Genomics Working Group",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "By which parent the variant was inherited in the patient, if known.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "copyright" : "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA26320-4",
            "display" : "Maternal"
          },
          {
            "code" : "LA26321-2",
            "display" : "Paternal"
          },
          {
            "code" : "LA4489-6",
            "display" : "Unknown"
          }
        ]
      }
    ]
  }
}