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Packagefhir.nwgenomics.nhs.uk
Resource TypeObservation
IdObservation-m2-diagnostic-implication.json
FHIR VersionR4

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Narrative

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

Generated Narrative: Observation m2-diagnostic-implication

identifier: Uniform Resource Identifier (URI)/urn:uuid:b4a59a58-73b8-4f47-a706-7dd0725ead83

status: Final

category: Laboratory, Genetics

code: diagnostic-implication

subject: Octavia CHISLETT

derivedFrom: BRCA1

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Anaemia in ovarian carcinoma

Source1

{
  "resourceType": "Observation",
  "id": "m2-diagnostic-implication",
  "meta": {
    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:uuid:b4a59a58-73b8-4f47-a706-7dd0725ead83"
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "diagnostic-implication"
      }
    ]
  },
  "subject": {
    "reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
    "identifier": {
      "system": "https://fhir.nhs.uk/Id/nhs-number",
      "value": "9449305552"
    },
    "display": "Octavia CHISLETT"
  },
  "derivedFrom": [
    {
      "reference": "Observation/brca1-variant",
      "display": "BRCA1"
    }
  ],
  "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",
            "display": "Associated phenotype"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "307726001",
            "display": "Anaemia in ovarian carcinoma"
          },
          {
            "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
            "code": "M2",
            "display": "Ovarian Carcinoma"
          }
        ]
      }
    }
  ]
}