NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

• Narrative Content
• XML
• JSON

: Genomic Study (Panel) - Lynch Syndrome Genetic Disease

Raw json | Download

{
  "resourceType" : "Observation",
  "id" : "53227665-9af2-4150-9891-40fa60dbfc0c",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation 53227665-9af2-4150-9891-40fa60dbfc0c</b></p><a name=\"53227665-9af2-4150-9891-40fa60dbfc0c\"> </a><a name=\"hc53227665-9af2-4150-9891-40fa60dbfc0c\"> </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>: 53227665-9af2-4150-9891-40fa60dbfc0c</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 51967-8}\">Genetic disease assessed [ID]</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>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}\">Inherited MMR deficiency (Lynch syndrome)</span></p></div>"
  },
  "identifier" : [
    {
      "value" : "53227665-9af2-4150-9891-40fa60dbfc0c"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "51967-8",
        "display" : "Genetic disease assessed [ID]"
      }
    ]
  },
  "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"
    }
  ],
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
        "code" : "R210",
        "display" : "Inherited MMR deficiency (Lynch syndrome)"
      }
    ]
  }
}