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Source1

{
  "resourceType": "CodeSystem",
  "id": "GenomicTestOutcomeCode",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode",
  "version": "0.1.0",
  "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"
    }
  ]
}