NHS North West Genomics
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NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

: DiagnosticImplication - Cystic Fibrosis Carrier - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="a954a98c-f427-4968-9022-8b760de66628"/>
  <meta>
    <profile
             value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation a954a98c-f427-4968-9022-8b760de66628</b></p><a name="a954a98c-f427-4968-9022-8b760de66628"> </a><a name="hca954a98c-f427-4968-9022-8b760de66628"> </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-Observation-DiagnosticImplication.html">Observation Diagnostic Implication</a></p></div><p><b>identifier</b>: a954a98c-f427-4968-9022-8b760de66628</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</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-Patient-Manchester.html">Liam MANCHESTER</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href="PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html">PractitionerRole</a></p><p><b>derivedFrom</b>: <a href="Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.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:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R185}, {http://snomed.info/sct 441520002}">Cystic fibrosis carrier testing</span></p></blockquote></div>
  </text>
  <identifier>
    <value value="a954a98c-f427-4968-9022-8b760de66628"/>
  </identifier>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <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>
  <subject>🔗 
    <reference value="Patient/Patient-Manchester"/>
    <display value="Liam MANCHESTER"/>
  </subject>
  <effectiveDateTime value="2025-10-23T10:37:26+00:00"/>
  <performer>🔗 
    <reference value="PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/bca547c1-78a5-41be-8cfc-03c05805ac85"/>
  </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="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/>
        <code value="R185"/>
        <display value="Cystic fibrosis carrier testing"/>
      </coding>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="441520002"/>
        <display value="Carrier of cystic fibrosis gene mutation"/>
      </coding>
      <text value="Cystic fibrosis carrier testing"/>
    </valueCodeableConcept>
  </component>
</Observation>