RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Clinical Significance Value Set - JSON Representation

Draft as of 2025-06-03

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{
  "resourceType" : "ValueSet",
  "id" : "clinical-significance-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet clinical-significance-vs</b></p><a name=\"clinical-significance-vs\"> </a><a name=\"hcclinical-significance-vs\"> </a><a name=\"clinical-significance-vs-en-US\"> </a><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=\"https://loinc.org/LA6668-3/\">LA6668-3</a></td><td>Pathogenic</td></tr><tr><td><a href=\"https://loinc.org/LA26332-9/\">LA26332-9</a></td><td>Likely pathogenic</td></tr><tr><td><a href=\"https://loinc.org/LA26333-7/\">LA26333-7</a></td><td>Uncertain significance</td></tr><tr><td><a href=\"https://loinc.org/LA26334-5/\">LA26334-5</a></td><td>Likely benign</td></tr><tr><td><a href=\"https://loinc.org/LA6675-8/\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"https://loinc.org/LA4489-6/\">LA4489-6</a></td><td>Unknown</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/clinical-significance-vs",
  "version" : "2.0.0",
  "name" : "ClinicalSignificanceVS",
  "title" : "Clinical Significance Value Set",
  "status" : "draft",
  "date" : "2025-06-03T09:15:35+00:00",
  "publisher" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
  "contact" : [
    {
      "name" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://github.com/BIH-CEI/RareLink"
        },
        {
          "system" : "email",
          "value" : "adam.graefe@charite.de"
        }
      ]
    }
  ],
  "description" : "LOINC LA codes for the clinical significance of a variant.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA6668-3",
            "display" : "Pathogenic"
          },
          {
            "code" : "LA26332-9",
            "display" : "Likely pathogenic"
          },
          {
            "code" : "LA26333-7",
            "display" : "Uncertain significance"
          },
          {
            "code" : "LA26334-5",
            "display" : "Likely benign"
          },
          {
            "code" : "LA6675-8",
            "display" : "Benign"
          },
          {
            "code" : "LA4489-6",
            "display" : "Unknown"
          }
        ]
      }
    ]
  }
}