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

: Karyotypic Sex Value Set - JSON Representation

Draft as of 2025-05-12

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{
  "resourceType" : "ValueSet",
  "id" : "karyotypic-sex-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet karyotypic-sex-vs</b></p><a name=\"karyotypic-sex-vs\"> </a><a name=\"hckaryotypic-sex-vs\"> </a><a name=\"karyotypic-sex-vs-en-US\"> </a><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</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://snomed.info/id/261665006\">261665006</a></td><td>Unknown</td></tr><tr><td><a href=\"http://snomed.info/id/734875008\">734875008</a></td><td>XX</td></tr><tr><td><a href=\"http://snomed.info/id/734876009\">734876009</a></td><td>XY</td></tr><tr><td><a href=\"http://snomed.info/id/80427008\">80427008</a></td><td>X0</td></tr><tr><td><a href=\"http://snomed.info/id/65162001\">65162001</a></td><td>XXY</td></tr><tr><td><a href=\"http://snomed.info/id/35111009\">35111009</a></td><td>XXX</td></tr><tr><td><a href=\"http://snomed.info/id/403760006\">403760006</a></td><td>XXYY</td></tr><tr><td><a href=\"http://snomed.info/id/78317008\">78317008</a></td><td>XXXY</td></tr><tr><td><a href=\"http://snomed.info/id/10567003\">10567003</a></td><td>XXXX</td></tr><tr><td><a href=\"http://snomed.info/id/48930007\">48930007</a></td><td>XYY</td></tr><tr><td><a href=\"http://snomed.info/id/74964007\">74964007</a></td><td>Other</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/karyotypic-sex-vs",
  "version" : "2.0.0",
  "name" : "KaryotypicSexVS",
  "title" : "Karyotypic Sex 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" : "Value set for capturing karyotypic sex.",
  "compose" : {
    "include" : [
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "261665006",
            "display" : "Unknown"
          },
          {
            "code" : "734875008",
            "display" : "XX"
          },
          {
            "code" : "734876009",
            "display" : "XY"
          },
          {
            "code" : "80427008",
            "display" : "X0"
          },
          {
            "code" : "65162001",
            "display" : "XXY"
          },
          {
            "code" : "35111009",
            "display" : "XXX"
          },
          {
            "code" : "403760006",
            "display" : "XXYY"
          },
          {
            "code" : "78317008",
            "display" : "XXXY"
          },
          {
            "code" : "10567003",
            "display" : "XXXX"
          },
          {
            "code" : "48930007",
            "display" : "XYY"
          },
          {
            "code" : "74964007",
            "display" : "Other"
          }
        ]
      }
    ]
  }
}