North West Genomic Medicine Service Alliance
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North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions

: Genomic Test Outcome Code - XML Representation

Draft as of 2025-05-08

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="GenomicTestOutcomeCode"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem GenomicTestOutcomeCode</b></p><a name="GenomicTestOutcomeCode"> </a><a name="hcGenomicTestOutcomeCode"> </a><p>This case-sensitive code system <code>https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">311<a name="GenomicTestOutcomeCode-311"> </a></td><td>RESULT CONSISTENT WITH REFERRAL INDICATION</td></tr><tr><td style="white-space:nowrap">312<a name="GenomicTestOutcomeCode-312"> </a></td><td>RESULT  PARTIALLY CAUSATIVE OF REFERRAL INDICATION</td></tr><tr><td style="white-space:nowrap">313<a name="GenomicTestOutcomeCode-313"> </a></td><td>GENETIC CAUSE WAS NOT FOUND</td></tr><tr><td style="white-space:nowrap">314<a name="GenomicTestOutcomeCode-314"> </a></td><td>RESULT OF UNCERTAIN SIGNIFICANCE</td></tr><tr><td style="white-space:nowrap">321<a name="GenomicTestOutcomeCode-321"> </a></td><td>VARIANT DETECTED</td></tr><tr><td style="white-space:nowrap">322<a name="GenomicTestOutcomeCode-322"> </a></td><td>VARIANT NOT DETECTED</td></tr><tr><td style="white-space:nowrap">323<a name="GenomicTestOutcomeCode-323"> </a></td><td>FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED</td></tr><tr><td style="white-space:nowrap">331<a name="GenomicTestOutcomeCode-331"> </a></td><td>VARIANT(S) DETECTED</td></tr><tr><td style="white-space:nowrap">332<a name="GenomicTestOutcomeCode-332"> </a></td><td>VARIANT(S) NOT DETECTED</td></tr><tr><td style="white-space:nowrap">411<a name="GenomicTestOutcomeCode-411"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS</td></tr><tr><td style="white-space:nowrap">412<a name="GenomicTestOutcomeCode-412"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS</td></tr><tr><td style="white-space:nowrap">413<a name="GenomicTestOutcomeCode-413"> </a></td><td>NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES</td></tr><tr><td style="white-space:nowrap">421<a name="GenomicTestOutcomeCode-421"> </a></td><td>VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED</td></tr><tr><td style="white-space:nowrap">422<a name="GenomicTestOutcomeCode-422"> </a></td><td>WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE</td></tr><tr><td style="white-space:nowrap">423<a name="GenomicTestOutcomeCode-423"> </a></td><td>WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED</td></tr><tr><td style="white-space:nowrap">431<a name="GenomicTestOutcomeCode-431"> </a></td><td>TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION</td></tr><tr><td style="white-space:nowrap">432<a name="GenomicTestOutcomeCode-432"> </a></td><td>NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION</td></tr><tr><td style="white-space:nowrap">961<a name="GenomicTestOutcomeCode-961"> </a></td><td>ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED</td></tr><tr><td style="white-space:nowrap">962<a name="GenomicTestOutcomeCode-962"> </a></td><td>NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED</td></tr><tr><td style="white-space:nowrap">971<a name="GenomicTestOutcomeCode-971"> </a></td><td>FAILURE</td></tr><tr><td style="white-space:nowrap">981<a name="GenomicTestOutcomeCode-981"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING</td></tr><tr><td style="white-space:nowrap">991<a name="GenomicTestOutcomeCode-991"> </a></td><td>OTHER (NOT LISTED)</td></tr><tr><td style="white-space:nowrap">992<a name="GenomicTestOutcomeCode-992"> </a></td><td>CAVEATED RESULT</td></tr></table></div>
  </text>
  <url value="https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode"/>
  <version value="0.0.7"/>
  <name value="GenomicTestOutcomeCode"/>
  <title value="Genomic Test Outcome Code"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2025-05-08"/>
  <publisher value="NHS North West GMSA"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nw-gmsa.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description
               value="Test Outcome Code from [NHS England Genomics Test Reporting Specification](https://www.england.nhs.uk/publication/genomics-testing-reporting-specification/)"/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="GB"/>
      <display value="United Kingdom of Great Britain and Northern Ireland"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="23"/>
  <concept>
    <code value="311"/>
    <display value="RESULT CONSISTENT WITH REFERRAL INDICATION"/>
  </concept>
  <concept>
    <code value="312"/>
    <display value="RESULT  PARTIALLY CAUSATIVE OF REFERRAL INDICATION"/>
  </concept>
  <concept>
    <code value="313"/>
    <display value="GENETIC CAUSE WAS NOT FOUND"/>
  </concept>
  <concept>
    <code value="314"/>
    <display value="RESULT OF UNCERTAIN SIGNIFICANCE"/>
  </concept>
  <concept>
    <code value="321"/>
    <display value="VARIANT DETECTED"/>
  </concept>
  <concept>
    <code value="322"/>
    <display value="VARIANT NOT DETECTED"/>
  </concept>
  <concept>
    <code value="323"/>
    <display
             value="FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED"/>
  </concept>
  <concept>
    <code value="331"/>
    <display value="VARIANT(S) DETECTED"/>
  </concept>
  <concept>
    <code value="332"/>
    <display value="VARIANT(S) NOT DETECTED"/>
  </concept>
  <concept>
    <code value="411"/>
    <display
             value="ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS"/>
  </concept>
  <concept>
    <code value="412"/>
    <display
             value="ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS"/>
  </concept>
  <concept>
    <code value="413"/>
    <display
             value="NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES"/>
  </concept>
  <concept>
    <code value="421"/>
    <display
             value="VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED"/>
  </concept>
  <concept>
    <code value="422"/>
    <display
             value="WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE"/>
  </concept>
  <concept>
    <code value="423"/>
    <display
             value="WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED"/>
  </concept>
  <concept>
    <code value="431"/>
    <display value="TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION"/>
  </concept>
  <concept>
    <code value="432"/>
    <display
             value="NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION"/>
  </concept>
  <concept>
    <code value="961"/>
    <display value="ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED"/>
  </concept>
  <concept>
    <code value="962"/>
    <display value="NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED"/>
  </concept>
  <concept>
    <code value="971"/>
    <display value="FAILURE"/>
  </concept>
  <concept>
    <code value="981"/>
    <display
             value="ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING"/>
  </concept>
  <concept>
    <code value="991"/>
    <display value="OTHER (NOT LISTED)"/>
  </concept>
  <concept>
    <code value="992"/>
    <display value="CAVEATED RESULT"/>
  </concept>
</CodeSystem>