{
  "resourceType" : "CodeSystem",
  "id" : "GenomicTestOutcomeCode",
  "language" : "en",
  "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://fhir.nwgenomics.nhs.uk/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://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode",
  "version" : "2.1.4",
  "name" : "GenomicTestOutcomeCode",
  "title" : "NHS England Genomic Test Outcome Code",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-05-08",
  "publisher" : "NHS North West Genomics",
  "contact" : [{
    "telecom" : [{
      "system" : "url",
      "value" : "https://www.nwgenomics.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"
  }]
}