{
  "resourceType" : "Observation",
  "id" : "6beb613f-d303-42af-b025-86e8e0872061",
  "meta" : {
    "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticImplication"]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation 6beb613f-d303-42af-b025-86e8e0872061</b></p><a name=\"6beb613f-d303-42af-b025-86e8e0872061\"> </a><a name=\"hc6beb613f-d303-42af-b025-86e8e0872061\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-DiagnosticImplication.html\">Diagnostic Implication (Observation)</a></p></div><p><b>identifier</b>: 6beb613f-d303-42af-b025-86e8e0872061</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd\">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-59577028-8fcc-4554-8b43-988561d41d9c\">PractitionerRole</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}, {http://snomed.info/sct 716318002}\">Inherited MMR deficiency (Lynch syndrome)</span></p></blockquote></div>"
  },
  "identifier" : [{
    "value" : "6beb613f-d303-42af-b025-86e8e0872061"
  }],
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE",
      "display" : "Genetics"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
      "code" : "diagnostic-implication",
      "display" : "Diagnostic Implication"
    }]
  },
  "subject" : {
    "reference" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
    "display" : "Ned LIVERPOOL"
  },
  "effectiveDateTime" : "2025-10-23T10:37:26+00:00",
  "performer" : [{
    "reference" : "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
  }],
  "derivedFrom" : [{
    "reference" : "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53037-8",
        "display" : "Genetic variation clinical significance [Imp]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6668-3",
        "display" : "Pathogenic"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81259-4"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
        "code" : "R210",
        "display" : "Inherited MMR deficiency (Lynch syndrome)"
      },
      {
        "system" : "http://snomed.info/sct",
        "code" : "716318002",
        "display" : "Lynch syndrome"
      }],
      "text" : "Inherited MMR deficiency (Lynch syndrome)"
    }
  }]
}