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

: Zygosity Value Set - JSON Representation

Draft as of 2025-06-03

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{
  "resourceType" : "ValueSet",
  "id" : "zygosity-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet zygosity-vs</b></p><a name=\"zygosity-vs\"> </a><a name=\"hczygosity-vs\"> </a><a name=\"zygosity-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/LA6705-3/\">LA6705-3</a></td><td>Homozygous</td></tr><tr><td><a href=\"https://loinc.org/LA6706-1/\">LA6706-1</a></td><td>(simple) Heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA26217-2/\">LA26217-2</a></td><td>Compound heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA26220-6/\">LA26220-6</a></td><td>Double heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA6707-9/\">LA6707-9</a></td><td>Hemizygous</td></tr><tr><td><a href=\"https://loinc.org/LA6703-8/\">LA6703-8</a></td><td>Heteroplasmic</td></tr><tr><td><a href=\"https://loinc.org/LA6704-6/\">LA6704-6</a></td><td>Homoplasmic</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/zygosity-vs",
  "version" : "2.0.0",
  "name" : "ZygosityVS",
  "title" : "Zygosity 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 enumerating various zygosity states.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA6705-3",
            "display" : "Homozygous"
          },
          {
            "code" : "LA6706-1",
            "display" : "(simple) Heterozygous"
          },
          {
            "code" : "LA26217-2",
            "display" : "Compound heterozygous"
          },
          {
            "code" : "LA26220-6",
            "display" : "Double heterozygous"
          },
          {
            "code" : "LA6707-9",
            "display" : "Hemizygous"
          },
          {
            "code" : "LA6703-8",
            "display" : "Heteroplasmic"
          },
          {
            "code" : "LA6704-6",
            "display" : "Homoplasmic"
          }
        ]
      }
    ]
  }
}