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Narrative

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Source1

{
  "resourceType": "Observation",
  "id": "example-variant-rearrangement",
  "meta": {
    "profile": [
      "http://deep6.ai/fhir/StructureDefinition/deep-6-ai-variant-2.1.0"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "use": "usual",
      "system": "http://fhir.deep6.ai/observation-id",
      "value": "variant-rearrangement-example"
    }
  ],
  "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",
          "display": "Genetics"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/patient-example"
  },
  "effectiveDateTime": "2023-05-09T20:26:11Z",
  "note": [
    {
      "text": "RET(NM_020630) rearrangement exon 9"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48019-4",
            "display": "DNA change type"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.sequenceontology.org",
            "code": "SO:0001785",
            "display": "structural_alteration"
          }
        ],
        "text": "rearrangement"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "HGNC:9967"
          }
        ],
        "text": "RET"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "HGNC:26444"
          }
        ],
        "text": "UROC1"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48000-4",
            "display": "Chromosome [Identifier] in Blood or Tissue by Molecular genetics method"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA21263-1"
          }
        ],
        "text": "chr10"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48000-4",
            "display": "Chromosome [Identifier] in Blood or Tissue by Molecular genetics method"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA21256-5"
          }
        ],
        "text": "chr3"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81302-2",
            "display": "Structural variant inner start and end"
          }
        ]
      },
      "valueRange": {
        "low": {
          "value": 43608005
        },
        "high": {
          "value": 43608305
        }
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81301-4",
            "display": "Structural variant outer start and end"
          }
        ]
      },
      "valueRange": {
        "low": {
          "value": 126210336
        },
        "high": {
          "value": 126210533
        }
      }
    }
  ]
}