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FHIR IG analytics

Packagefhir.nwgenomics.nhs.uk
Resource TypeObservation
IdObservation-6beb613f-d303-42af-b025-86e8e0872061.json
FHIR VersionR4

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Observation 6beb613f-d303-42af-b025-86e8e0872061

identifier: 6beb613f-d303-42af-b025-86e8e0872061

status: Final

category: Genetics, Laboratory

code: Diagnostic Implication

subject: Nedl LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Inherited MMR deficiency (Lynch syndrome)

Source1

{
  "resourceType": "Observation",
  "id": "6beb613f-d303-42af-b025-86e8e0872061",
  "meta": {
    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticImplication"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "value": "6beb613f-d303-42af-b025-86e8e0872061"
    }
  ],
  "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-Liverpool",
    "display": "Nedl LIVERPOOL"
  },
  "effectiveDateTime": "2025-10-23T10:37:26+00:00",
  "performer": [
    {
      "reference": "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
    }
  ],
  "derivedFrom": [
    {
      "reference": "Observation/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": "1365861003",
            "display": "Lynch syndrome gene mutation detected"
          }
        ],
        "text": "Inherited MMR deficiency (Lynch syndrome)"
      }
    }
  ]
}