Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: obs-idh-ex - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="obs-idh-ex"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative</b></p><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">Resource "obs-idh-ex" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>Genomics Artifact</b>: </p><p><b style="color: maroon">Exception generating Narrative: type org.hl7.fhir.r5.model.RelatedArtifact not handled - should not be here</b></p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact">
    <valueRelatedArtifact>
      <type value="citation"/>
      <url
           value="https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"/>
    </valueRelatedArtifact>
  </extension>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="diagnostic-implication"/>
      <display value="Diagnostic Implication"/>
    </coding>
  </code>
  <derivedFrom>
    <reference value="Observation/SNVexample"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53037-8"/>
        <display value="Genetic variation clinical significance [Imp]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6668-3"/>
        <display value="Pathogenic"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81259-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.ncbi.nlm.nih.gov/medgen"/>
        <code value="C0010674"/>
        <display value="Cystic fibrosis"/>
      </coding>
      <coding>
        <system value="http://www.orpha.net"/>
        <code value="ORPHA:586"/>
      </coding>
      <coding>
        <system value="http://www.omim.org"/>
        <code value="219700"/>
      </coding>
      <text value="Cystic fibrosis"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="condition-inheritance"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://hpo.jax.org/app/"/>
        <code value="0000007"/>
        <display value="Autosomal recessive inheritance"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>