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

: Undiagnosed Rare Disease Case Value Set - JSON Representation

Draft as of 2025-06-03

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{
  "resourceType" : "ValueSet",
  "id" : "undiagnosed-rd-case-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet undiagnosed-rd-case-vs</b></p><a name=\"undiagnosed-rd-case-vs\"> </a><a name=\"hcundiagnosed-rd-case-vs\"> </a><a name=\"undiagnosed-rd-case-vs-en-US\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>http://www.orpha.net/ORDO</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>616874</td><td>Rare disorder without a determined diagnosis after full investigation</td></tr></table></li><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/373067005\">373067005</a></td><td>A Rare Disease was diagnosed</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/undiagnosed-rd-case-vs",
  "version" : "2.0.0",
  "name" : "UndiagnosedRDCaseVS",
  "title" : "Undiagnosed Rare Disease Case 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" : "Value set for capturing undiagnosed rare disease cases.",
  "compose" : {
    "include" : [
      {
        "system" : "http://www.orpha.net/ORDO",
        "concept" : [
          {
            "code" : "616874",
            "display" : "Rare disorder without a determined diagnosis after full investigation"
          }
        ]
      },
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "373067005",
            "display" : "A Rare Disease was diagnosed"
          }
        ]
      }
    ]
  }
}