{
  "resourceType" : "Bundle",
  "id" : "FHIRDocumentGeneticReportBundle2",
  "meta" : {
    "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleDocument"]
  },
  "language" : "en",
  "identifier" : {
    "system" : "urn:oid:2.16.724.4.8.10.200.10",
    "value" : "e51f87e6-f43f-4c7a-b475-23b784e2b852"
  },
  "type" : "document",
  "timestamp" : "2024-10-13T10:33:00+00:00",
  "entry" : [{
    "fullUrl" : "urn:uuid:c55a7dc6-9b29-4cd6-ab8f-9aea594aabde",
    "resource" : {
      "resourceType" : "Composition",
      "id" : "Composition-GenomicsReport-LynchSyndrome",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Composition-GenomicReport"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Composition_Composition-GenomicsReport-LynchSyndrome\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Composition Composition-GenomicsReport-LynchSyndrome</b></p><a name=\"Composition-GenomicsReport-LynchSyndrome\"> </a><a name=\"hcComposition-GenomicsReport-LynchSyndrome\"> </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-Composition-GenomicReport.html\">Composition Genomic Report</a></p></div><p><b>identifier</b>: <code>http://www.acme.org/diagnosticreport/identifiers</code>/98763a9b-98d4-4cfc-b760-1db086ec52a1</p><p><b>status</b>: Final</p><p><b>type</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R210.2}, {http://snomed.info/sct 1054161000000101}\">Genetic report</span></p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>encounter</b>: Identifier: <code>http://www.acme.org/encounter/identifiers/RBS</code>/66717</p><p><b>date</b>: 2024-10-13 10:33:00+0000</p><p><b>author</b>: MANCHESTER UNIVERSITY NHS FOUNDATION TRUST (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/R0A)</p><p><b>title</b>: Composition Genomics Report Lynch Syndrome</p></div>"
      },
      "identifier" : {
        "system" : "http://www.acme.org/diagnosticreport/identifiers",
        "value" : "98763a9b-98d4-4cfc-b760-1db086ec52a1",
        "assigner" : {
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "699X0"
          }
        }
      },
      "status" : "final",
      "type" : {
        "coding" : [{
          "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
          "code" : "R210.2"
        },
        {
          "system" : "http://snomed.info/sct",
          "code" : "1054161000000101",
          "display" : "Genetic report"
        }]
      },
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "subject" : {
        "reference" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
        "display" : "Ned LIVERPOOL"
      },
      "encounter" : {
        "identifier" : {
          "system" : "http://www.acme.org/encounter/identifiers/RBS",
          "value" : "66717",
          "assigner" : {
            "identifier" : {
              "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
              "value" : "RBS"
            }
          }
        }
      },
      "date" : "2024-10-13T10:33:00+00:00",
      "author" : [{
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
          "value" : "R0A"
        },
        "display" : "MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"
      }],
      "title" : "Composition Genomics Report Lynch Syndrome",
      "section" : [{
        "title" : "Findings",
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "59776-5",
            "display" : "Findings"
          }]
        },
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Findings</li></ul></div>"
        },
        "entry" : [{
          "reference" : "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
        },
        {
          "reference" : "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5"
        }]
      },
      {
        "title" : "Implications",
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "59768-2",
            "display" : "Procedure indications Imp"
          }]
        },
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Implications</li></ul></div>"
        },
        "entry" : [{
          "reference" : "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"
        },
        {
          "reference" : "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa"
        }]
      }]
    }
  },
  {
    "fullUrl" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
    "resource" : {
      "resourceType" : "Patient",
      "id" : "Patient-Liverpool",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Patient"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_Patient-Liverpool\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient Patient-Liverpool</b></p><a name=\"Patient-Liverpool\"> </a><a name=\"hcPatient-Liverpool\"> </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-Patient.html\">Patient</a></p></div><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Ned LIVERPOOL (official) Male, DoB: 1942-06-18 ( Medical record number)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Record is active\">Active:</td><td colspan=\"3\">true</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Other Id (see the one above)\">Other Id:</td><td colspan=\"3\">National Health Plan Identifier/9737383206\u00a0(use:\u00a0official,\u00a0)</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\">20 Forthlin Road LIVERPOOL L18 9TN (home)</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Patient contact\">Contact:</td><td colspan=\"3\"><ul><li>Ringo LIVERPOOL (Official)</li><li>ph: 077021231231(Mobile)</li></ul></td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Patient Links\">Links:</td><td colspan=\"3\"><ul><li>General Practitioner: MATHER AVENUE SURGERY (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/N82035)</li></ul></td></tr></table></div>"
      },
      "identifier" : [{
        "use" : "official",
        "type" : {
          "coding" : [{
            "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
            "code" : "NH"
          }]
        },
        "system" : "https://fhir.nhs.uk/Id/nhs-number",
        "value" : "9737383206"
      },
      {
        "type" : {
          "coding" : [{
            "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
            "code" : "MR"
          }]
        },
        "value" : "A765432",
        "assigner" : {
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "RBS"
          }
        }
      }],
      "active" : true,
      "name" : [{
        "use" : "official",
        "family" : "LIVERPOOL",
        "given" : ["Ned"]
      }],
      "gender" : "male",
      "birthDate" : "1942-06-18",
      "address" : [{
        "use" : "home",
        "type" : "both",
        "line" : ["20 Forthlin Road"],
        "city" : "LIVERPOOL",
        "postalCode" : "L18 9TN"
      }],
      "contact" : [{
        "name" : {
          "use" : "official",
          "family" : "LIVERPOOL",
          "given" : ["Ringo"]
        },
        "telecom" : [{
          "system" : "phone",
          "value" : "077021231231",
          "use" : "mobile"
        }]
      }],
      "generalPractitioner" : [{
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
          "value" : "N82035"
        },
        "display" : "MATHER AVENUE SURGERY"
      }]
    }
  },
  {
    "fullUrl" : "urn:uuid:c64139e7-f02d-409c-bf34-75e8bf23bc80",
    "resource" : {
      "resourceType" : "DiagnosticReport",
      "id" : "DiagnosticReportGenomicsReportLS",
      "meta" : {
        "versionId" : "1.0",
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_DiagnosticReportGenomicsReportLS\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport DiagnosticReportGenomicsReportLS</b></p><a name=\"DiagnosticReportGenomicsReportLS\"> </a><a name=\"hcDiagnosticReportGenomicsReportLS\"> </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\">version: 1.0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-DiagnosticReport.html\">Diagnostic Report</a></p></div><h2><span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R210.2}, {http://snomed.info/sct 1054161000000101}\">Genetic report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Octavia CHISLETT (official) Female, DoB: 2008-09-20 ( Medical record number)</td></tr><tr><td>Relevant Time</td><td>2023-09-07 11:45:41+0000</td></tr><tr><td>Performer</td><td> NW GLH (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</td></tr><tr><td>Identifier</td><td> <code>http://www.acme.org/diagnosticreport/identifiers</code>/98763a9b-98d4-4cfc-b760-1db086ec52a1</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-6beb613f-d303-42af-b025-86e8e0872061\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-0878c5de-c22f-4e31-841a-a82ad31c93aa\"><span title=\"Codes:{http://loinc.org 81306-3}\">Variables that apply to the overall study</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-4490c092-c78c-480a-8cb7-653b70113fd5\"><span title=\"Codes:{http://snomed.info/sct 716318002}\">Lynch syndrome</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr></table><p>Normal - no action</p></div>"
      },
      "extension" : [{
        "url" : "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.composition",
        "valueReference" : {
          "reference" : "urn:uuid:c55a7dc6-9b29-4cd6-ab8f-9aea594aabde"
        }
      }],
      "identifier" : [{
        "system" : "http://www.acme.org/diagnosticreport/identifiers",
        "value" : "98763a9b-98d4-4cfc-b760-1db086ec52a1",
        "assigner" : {
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "699X0"
          }
        }
      }],
      "basedOn" : [{
        "type" : "ServiceRequest",
        "identifier" : {
          "type" : {
            "coding" : [{
              "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
              "code" : "PLAC"
            }]
          },
          "system" : "http://www.acme.org/servicerequest",
          "value" : "66717",
          "assigner" : {
            "identifier" : {
              "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
              "value" : "699X0"
            }
          }
        }
      }],
      "status" : "final",
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "code" : {
        "coding" : [{
          "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
          "code" : "R210.2"
        },
        {
          "system" : "http://snomed.info/sct",
          "code" : "1054161000000101",
          "display" : "Genetic report"
        }]
      },
      "subject" : {
        "reference" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/nhs-number",
          "value" : "9737383206"
        },
        "display" : "Ned LIVERPOOL"
      },
      "encounter" : {
        "identifier" : {
          "system" : "http://www.acme.org/encounter/identifiers/RBS",
          "value" : "66717",
          "assigner" : {
            "identifier" : {
              "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
              "value" : "RBS"
            }
          }
        }
      },
      "effectiveDateTime" : "2023-09-07T11:45:41+00:00",
      "performer" : [{
        "type" : "Organization",
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
          "value" : "699X0"
        },
        "display" : "NW GLH"
      }],
      "resultsInterpreter" : [{
        "reference" : "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c",
        "type" : "PractitionerRole",
        "identifier" : {
          "system" : "https://fhir.hl7.org.uk/Id/gmc-number",
          "value" : "C1234567"
        },
        "display" : "FICTITIOUS, Ralph"
      }],
      "result" : [{
        "reference" : "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"
      },
      {
        "reference" : "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa"
      },
      {
        "reference" : "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
      },
      {
        "reference" : "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5"
      }],
      "conclusion" : "Normal - no action"
    }
  },
  {
    "fullUrl" : "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c",
    "resource" : {
      "resourceType" : "PractitionerRole",
      "id" : "59577028-8fcc-4554-8b43-988561d41d9c",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerRole"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"PractitionerRole_59577028-8fcc-4554-8b43-988561d41d9c\"> </a><p class=\"res-header-id\"><b>Generated Narrative: PractitionerRole 59577028-8fcc-4554-8b43-988561d41d9c</b></p><a name=\"59577028-8fcc-4554-8b43-988561d41d9c\"> </a><a name=\"hc59577028-8fcc-4554-8b43-988561d41d9c\"> </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-PractitionerRole.html\">PractitionerRole</a></p></div><p><b>practitioner</b>: Result INTERPRETER</p><p><b>organization</b>: North West Genomics (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</p></div>"
      },
      "practitioner" : {
        "display" : "Result INTERPRETER"
      },
      "organization" : {
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
          "value" : "699X0"
        },
        "display" : "North West Genomics"
      }
    }
  },
  {
    "fullUrl" : "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061",
    "resource" : {
      "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\"><a name=\"Observation_6beb613f-d303-42af-b025-86e8e0872061\"> </a><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)"
        }
      }]
    }
  },
  {
    "fullUrl" : "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa",
    "resource" : {
      "resourceType" : "Observation",
      "id" : "0878c5de-c22f-4e31-841a-a82ad31c93aa",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 0878c5de-c22f-4e31-841a-a82ad31c93aa</b></p><a name=\"0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </a><a name=\"hc0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </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-GenomicStudyPanel.html\">Genomic Study Panel</a></p></div><p><b>identifier</b>: 0878c5de-c22f-4e31-841a-a82ad31c93aa</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://loinc.org 81306-3}\">Variables that apply to the overall study</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>hasMember</b>: <a href=\"Observation-53227665-9af2-4150-9891-40fa60dbfc0c.html\">Observation Genetic disease assessed [ID]</a></p></div>"
      },
      "identifier" : [{
        "value" : "0878c5de-c22f-4e31-841a-a82ad31c93aa"
      }],
      "status" : "final",
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "code" : {
        "coding" : [{
          "system" : "http://loinc.org",
          "code" : "81306-3",
          "display" : "Variables that apply to the overall study"
        }]
      },
      "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"
      }],
      "hasMember" : [{
        "reference" : "Observation/53227665-9af2-4150-9891-40fa60dbfc0c"
      }]
    }
  },
  {
    "fullUrl" : "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
    "resource" : {
      "resourceType" : "Observation",
      "id" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</b></p><a name=\"8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><a name=\"hc8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </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-Variant.html\">Variant (Observation)</a></p></div><p><b>identifier</b>: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</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://loinc.org 69548-6}\">Genetic variant assessment</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>method</b>: <span title=\"Codes:{http://snomed.info/sct 264896000}\">Nucleic acid analysis</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:89753}\">NTHL1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000249}\">NM_000249</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NG_007109.2:g.40514dupC}\">NG_007109.2:g.40514dupC</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6686-5}\">Duplication</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote></div>"
      },
      "identifier" : [{
        "value" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
      }],
      "status" : "final",
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "code" : {
        "coding" : [{
          "system" : "http://loinc.org",
          "code" : "69548-6",
          "display" : "Genetic variant assessment"
        }]
      },
      "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"
      }],
      "method" : {
        "coding" : [{
          "system" : "http://snomed.info/sct",
          "code" : "264896000",
          "display" : "Nucleic acid analysis"
        }]
      },
      "component" : [{
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.genenames.org",
            "code" : "HGNC:89753",
            "display" : "NTHL1"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "51958-7",
            "display" : "Transcript reference sequence [ID]"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.ncbi.nlm.nih.gov/refseq",
            "code" : "NM_000249"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48013-7",
            "display" : "Genomic reference sequence [ID]"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.ncbi.nlm.nih.gov/refseq",
            "code" : "NG_007109.2:g.40514dupC"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48019-4",
            "display" : "DNA change type"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6686-5",
            "display" : "Duplication"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48002-0",
            "display" : "Genomic source class"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6683-2",
            "display" : "Germline"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "53034-5",
            "display" : "Allelic state"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6706-1",
            "display" : "Heterozygous"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "69547-8",
            "display" : "Genomic ref allele [ID]"
          }]
        },
        "valueString" : "C"
      }]
    }
  },
  {
    "fullUrl" : "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5",
    "resource" : {
      "resourceType" : "Observation",
      "id" : "4490c092-c78c-480a-8cb7-653b70113fd5",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_4490c092-c78c-480a-8cb7-653b70113fd5\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 4490c092-c78c-480a-8cb7-653b70113fd5</b></p><a name=\"4490c092-c78c-480a-8cb7-653b70113fd5\"> </a><a name=\"hc4490c092-c78c-480a-8cb7-653b70113fd5\"> </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-Observation.html\">Observation</a></p></div><p><b>identifier</b>: 4490c092-c78c-480a-8cb7-653b70113fd5</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://snomed.info/sct 716318002}\">Lynch syndrome</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></div>"
      },
      "identifier" : [{
        "value" : "4490c092-c78c-480a-8cb7-653b70113fd5"
      }],
      "status" : "final",
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "code" : {
        "coding" : [{
          "system" : "http://snomed.info/sct",
          "code" : "716318002",
          "display" : "Lynch syndrome"
        }]
      },
      "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"
      }]
    }
  }]
}