NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.2.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON

: Genomic Study (Panel) - Lynch Syndrome - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "0878c5de-c22f-4e31-841a-a82ad31c93aa",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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 (Observation 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>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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=\"Patient-Patient-Liverpool.html\">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 51967-8}\">Genetic disease(s) assessed</span></td><td><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}\">Inherited MMR deficiency (Lynch syndrome)</span></td></tr></table></div>"
  },
  "identifier" : [
    {
      "value" : "0878c5de-c22f-4e31-841a-a82ad31c93aa"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }
      ]
    },
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "81306-3",
        "display" : "Variables that apply to the overall study"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/Patient-Liverpool",
    "display" : "Ned LIVERPOOL"
  },
  "effectiveDateTime" : "2025-10-23T10:37:26+00:00",
  "performer" : [
    {
      🔗 "reference" : "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "51967-8",
            "display" : "Genetic disease(s) assessed"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
            "code" : "R210",
            "display" : "Inherited MMR deficiency (Lynch syndrome)"
          }
        ]
      }
    }
  ]
}