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 - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="undiagnosed-rd-case-vs"/>
  <text>
    <status value="generated"/>
    <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>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/undiagnosed-rd-case-vs"/>
  <version value="2.0.0"/>
  <name value="UndiagnosedRDCaseVS"/>
  <title value="Undiagnosed Rare Disease Case Value Set"/>
  <status value="draft"/>
  <date value="2025-05-12T08:03:20+00:00"/>
  <publisher
             value="Berlin Institute of Health - Charité Universitätsmedizin Berlin"/>
  <contact>
    <name
          value="Berlin Institute of Health - Charité Universitätsmedizin Berlin"/>
    <telecom>
      <system value="url"/>
      <value value="https://github.com/BIH-CEI/RareLink"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="adam.graefe@charite.de"/>
    </telecom>
  </contact>
  <description
               value="Value set for capturing undiagnosed rare disease cases."/>
  <compose>
    <include>
      <system value="http://www.orpha.net/ORDO"/>
      <concept>
        <code value="616874"/>
        <display
                 value="Rare disorder without a determined diagnosis after full investigation"/>
      </concept>
    </include>
    <include>
      <system value="http://snomed.info/sct"/>
      <concept>
        <code value="373067005"/>
        <display value="A Rare Disease was diagnosed"/>
      </concept>
    </include>
  </compose>
</ValueSet>