North West Genomic Medicine Service Alliance
0.0.7 - ci-build
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 |
{
"resourceType" : "CodeSystem",
"id" : "GenomicTestOutcomeCode",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"url" : "https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode",
"version" : "0.0.7",
"name" : "GenomicTestOutcomeCode",
"title" : "Genomic Test Outcome Code",
"status" : "draft",
"experimental" : false,
"date" : "2025-05-08",
"publisher" : "NHS North West GMSA",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nw-gmsa.nhs.uk/contact-us"
}
]
}
],
"description" : "Test Outcome Code from [NHS England Genomics Test Reporting Specification](https://www.england.nhs.uk/publication/genomics-testing-reporting-specification/)",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"caseSensitive" : true,
"content" : "complete",
"count" : 23,
"concept" : [
{
"code" : "311",
"display" : "RESULT CONSISTENT WITH REFERRAL INDICATION"
},
{
"code" : "312",
"display" : "RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION"
},
{
"code" : "313",
"display" : "GENETIC CAUSE WAS NOT FOUND"
},
{
"code" : "314",
"display" : "RESULT OF UNCERTAIN SIGNIFICANCE"
},
{
"code" : "321",
"display" : "VARIANT DETECTED"
},
{
"code" : "322",
"display" : "VARIANT NOT DETECTED"
},
{
"code" : "323",
"display" : "FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED"
},
{
"code" : "331",
"display" : "VARIANT(S) DETECTED"
},
{
"code" : "332",
"display" : "VARIANT(S) NOT DETECTED"
},
{
"code" : "411",
"display" : "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS"
},
{
"code" : "412",
"display" : "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS"
},
{
"code" : "413",
"display" : "NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES"
},
{
"code" : "421",
"display" : "VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED"
},
{
"code" : "422",
"display" : "WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE"
},
{
"code" : "423",
"display" : "WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED"
},
{
"code" : "431",
"display" : "TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION"
},
{
"code" : "432",
"display" : "NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION"
},
{
"code" : "961",
"display" : "ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED"
},
{
"code" : "962",
"display" : "NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED"
},
{
"code" : "971",
"display" : "FAILURE"
},
{
"code" : "981",
"display" : "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING"
},
{
"code" : "991",
"display" : "OTHER (NOT LISTED)"
},
{
"code" : "992",
"display" : "CAVEATED RESULT"
}
]
}
IG © 2024+ NHS North West GMSA. Package nw-gmsa.github.io#0.0.7 based on FHIR 4.0.1. Generated 2025-09-04
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