North West Genomic Medicine Service Alliance
0.0.7 - ci-build
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
Draft as of 2025-05-08 |
<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>