HL7 Czech DIGOVO Implementation Guide
0.0.1 - ci-build Czechia flag

HL7 Czech DIGOVO Implementation Guide, published by HL7 Czech Republic. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7-cz/DIGOVO/ and changes regularly. See the Directory of published versions

: HGVS kódování genetických variant (DIGOVO) - XML Representation

Active as of 2025-11-08

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="vs-hgvs-code-cz"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet vs-hgvs-code-cz</b></p><a name="vs-hgvs-code-cz"> </a><a name="hcvs-hgvs-code-cz"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include all codes defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-hgvs.html"><code>http://varnomen.hgvs.org</code></a><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.ncbi.nlm.nih.gov/clinvar</code><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.omim.org</code><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span></li></ul></div>
  </text>
  <url value="https://hl7.cz/fhir/DIGOVO/ValueSet/vs-hgvs-code-cz"/>
  <version value="0.0.1"/>
  <name value="VsHgvsCodeCz"/>
  <title value="HGVS kódování genetických variant (DIGOVO)"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2025-11-08T23:36:31+00:00"/>
  <publisher value="HL7 Czech Republic"/>
  <contact>
    <name value="HL7 Czech Republic"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.hl7.cz/"/>
    </telecom>
  </contact>
  <description
               value="Soubor kódů pro popis genetických variant dle standardu HGVS (Human Genome Variation Society).
Používá se v rámci profilu CZ_Observation_Genotype jako hodnota (`valueCodeableConcept`).
Hodnoty odpovídají záznamům genetických variant, např. c.76A&gt;T, p.Glu6Val.
Zdrojem dat jsou HGVS zápisy, OMIM, ClinVar nebo interní registr variant."/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="CZ"/>
      <display value="Czechia"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://varnomen.hgvs.org"/>
    </include>
    <include>
      <system value="https://www.ncbi.nlm.nih.gov/clinvar"/>
    </include>
    <include>
      <system value="https://www.omim.org"/>
    </include>
  </compose>
</ValueSet>