NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 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

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: DiagnosticImplication - Cystic Fibrosis Carrier - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "a954a98c-f427-4968-9022-8b760de66628",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation a954a98c-f427-4968-9022-8b760de66628</b></p><a name=\"a954a98c-f427-4968-9022-8b760de66628\"> </a><a name=\"hca954a98c-f427-4968-9022-8b760de66628\"> </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-DiagnosticImplication.html\">Observation Diagnostic Implication</a></p></div><p><b>identifier</b>: a954a98c-f427-4968-9022-8b760de66628</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-Patient-Manchester.html\">Liam MANCHESTER</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><p><b>derivedFrom</b>: <a href=\"Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html\">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 R185}, {http://snomed.info/sct 441520002}\">Cystic fibrosis carrier testing</span></p></blockquote></div>"
  },
  "identifier" : [
    {
      "value" : "a954a98c-f427-4968-9022-8b760de66628"
    }
  ],
  "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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "diagnostic-implication",
        "display" : "Diagnostic Implication"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/Patient-Manchester",
    "display" : "Liam MANCHESTER"
  },
  "effectiveDateTime" : "2025-10-23T10:37:26+00:00",
  "performer" : [
    {
      🔗 "reference" : "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/bca547c1-78a5-41be-8cfc-03c05805ac85"
    }
  ],
  "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" : "R185",
            "display" : "Cystic fibrosis carrier testing"
          },
          {
            "system" : "http://snomed.info/sct",
            "code" : "441520002",
            "display" : "Carrier of cystic fibrosis gene mutation"
          }
        ],
        "text" : "Cystic fibrosis carrier testing"
      }
    }
  ]
}