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

: Structural Variant Method Value Set - JSON Representation

Draft as of 2025-05-12

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{
  "resourceType" : "ValueSet",
  "id" : "structural-variant-method-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet structural-variant-method-vs</b></p><a name=\"structural-variant-method-vs\"> </a><a name=\"hcstructural-variant-method-vs\"> </a><a name=\"structural-variant-method-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/LA26406-1/\">LA26406-1</a></td><td>Karyotyping</td></tr><tr><td><a href=\"https://loinc.org/LA26404-6/\">LA26404-6</a></td><td>FISH</td></tr><tr><td><a href=\"https://loinc.org/LA26418-6/\">LA26418-6</a></td><td>PCR</td></tr><tr><td><a href=\"https://loinc.org/LA26419-4/\">LA26419-4</a></td><td>qPCR (real-time PCR)</td></tr><tr><td><a href=\"https://loinc.org/LA26400-4/\">LA26400-4</a></td><td>SNP array</td></tr><tr><td><a href=\"https://loinc.org/LA26813-8/\">LA26813-8</a></td><td>Restriction fragment length polymorphism (RFLP)</td></tr><tr><td><a href=\"https://loinc.org/LA26810-4/\">LA26810-4</a></td><td>DNA hybridization</td></tr><tr><td><a href=\"https://loinc.org/LA26398-0/\">LA26398-0</a></td><td>Sequencing</td></tr><tr><td><a href=\"https://loinc.org/LA26415-2/\">LA26415-2</a></td><td>MLPA</td></tr><tr><td><a href=\"https://loinc.org/LA46-8/\">LA46-8</a></td><td>Other</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/structural-variant-method-vs",
  "version" : "2.0.0",
  "name" : "StructuralVariantMethodVS",
  "title" : "Structural Variant Method Value Set",
  "status" : "draft",
  "date" : "2025-05-12T08:03:20+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 enumerating methods for detecting structural variants.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA26406-1",
            "display" : "Karyotyping"
          },
          {
            "code" : "LA26404-6",
            "display" : "FISH"
          },
          {
            "code" : "LA26418-6",
            "display" : "PCR"
          },
          {
            "code" : "LA26419-4",
            "display" : "qPCR (real-time PCR)"
          },
          {
            "code" : "LA26400-4",
            "display" : "SNP array"
          },
          {
            "code" : "LA26813-8",
            "display" : "Restriction fragment length polymorphism (RFLP)"
          },
          {
            "code" : "LA26810-4",
            "display" : "DNA hybridization"
          },
          {
            "code" : "LA26398-0",
            "display" : "Sequencing"
          },
          {
            "code" : "LA26415-2",
            "display" : "MLPA"
          },
          {
            "code" : "LA46-8",
            "display" : "Other"
          }
        ]
      }
    ]
  }
}