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Packagefhir.nwgenomics.nhs.uk
Resource TypeObservation
IdObservation-brca1-variant.json
FHIR VersionR4

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Narrative

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

Generated Narrative: Observation brca1-variant

identifier: Uniform Resource Identifier (URI)/urn:uuid:dfa620b9-0b78-4c57-8f20-7772131b917d

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Octavia CHISLETT

value: Present

method: Sequencing

component

code: Genomic reference sequence [ID]

value: BRCA1

component

code: Allelic state

value: Heterozygous

component

code: DNA change

value: BRCA1:c.3143delG p.(Gly1048ValfsTer14)

Source1

{
  "resourceType": "Observation",
  "id": "brca1-variant",
  "meta": {
    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-Variant"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:uuid:dfa620b9-0b78-4c57-8f20-7772131b917d"
    }
  ],
  "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://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
    "identifier": {
      "system": "https://fhir.nhs.uk/Id/nhs-number",
      "value": "9449305552"
    },
    "display": "Octavia CHISLETT"
  },
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48013-7"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "HGNC:1100",
            "display": "BRCA1"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53034-5",
            "display": "Allelic state"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6706-1",
            "display": "Heterozygous"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48004-6",
            "display": "DNA change"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "BRCA1:c.3143delG p.(Gly1048ValfsTer14)"
          }
        ]
      }
    }
  ]
}