PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: Example Variant Annotation - XML Representation

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<Basic xmlns="http://hl7.org/fhir">
  <id value="variant-annotation-example-1"/>
  <meta>
    <profile
             value="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Basic variant-annotation-example-1</b></p><a name="variant-annotation-example-1"> </a><a name="hcvariant-annotation-example-1"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-variant-annotation.html">Variant Annotation</a></p></div><p><b>Variant occurrence ID relationship</b>: <a href="Basic-variant-occurrence-example-1.html">Basic Single nucleotide variant</a></p><p><b>Annotation database</b>: ClinVar</p><p><b>Variant origin</b>: germline</p><p><b>Variant pathogenicity</b>: pathogenic</p><p><b>Variant class level</b>: ACMG Class 5</p><p><b>Variant tier level</b>: Tier 1</p><p><b>Allele frequency</b>: 0.0001</p><p><b>Medication</b>: PARP inhibitor</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id</code>/VA0001</p><p><b>code</b>: <span title="Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type clinical}">Clinical variant annotation</span></p></div>
  </text>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-occurrence-ref">
    <valueReference>🔗 
      <reference value="Basic/variant-occurrence-example-1"/>
    </valueReference>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-annotation-database">
    <valueString value="ClinVar"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-origin">
    <valueString value="germline"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-pathogeny">
    <valueString value="pathogenic"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-class-level">
    <valueString value="ACMG Class 5"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-tier-level">
    <valueString value="Tier 1"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-allele-frequency">
    <valueDecimal value="0.0001"/>
  </extension>
  <extension
             url="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-medication">
    <valueString value="PARP inhibitor"/>
  </extension>
  <identifier>
    <system
            value="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id"/>
    <value value="VA0001"/>
  </identifier>
  <code>
    <coding>
      <system
              value="https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type"/>
      <code value="clinical"/>
      <display value="Clinical variant annotation"/>
    </coding>
  </code>
</Basic>