Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. 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="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation obs-idh-ex</b></p><a name="obs-idh-ex"> </a><a name="hcobs-idh-ex"> </a><a name="hcobs-idh-ex-en-US"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Patient-HG00403.html">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href="Organization-ExampleLab.html">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href="Observation-SNVexample.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://purl.obolibrary.org/obo/mondo.owl MONDO:0009061}">Cystic fibrosis</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}">Condition Inheritance</span></p><p><b>value</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0000007}">Autosomal recessive inheritance</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </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>
  <subject>🔗 
    <reference value="Patient/HG00403"/>
  </subject>
  <effectiveDateTime value="2023-06-01"/>
  <performer>🔗 
    <reference value="Organization/ExampleLab"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/SNVexample"/>
  </derivedFrom>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component">
      <valueRelatedArtifact>
        <type value="citation"/>
        <url
             value="https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"/>
      </valueRelatedArtifact>
    </extension>
    <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://purl.obolibrary.org/obo/mondo.owl"/>
        <code value="MONDO:0009061"/>
        <display value="cystic fibrosis"/>
      </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://human-phenotype-ontology.org"/>
        <code value="HP:0000007"/>
        <display value="Autosomal recessive inheritance"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>