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FHIR IG analytics

Packagehl7.fhir.uv.genomics-reporting
Resource TypeParameters
IdParameters-FindSubjectStructuralSubsumingVariantsOutput.json
FHIR VersionR4

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Source1

{
  "resourceType": "Parameters",
  "id": "FindSubjectStructuralSubsumingVariantsOutput",
  "parameter": [
    {
      "name": "variants",
      "part": [
        {
          "name": "rangeItem",
          "valueString": "NC_000007.14:116672195-116798386"
        },
        {
          "name": "presence",
          "valueBoolean": true
        },
        {
          "name": "variant",
          "resource": {
            "resourceType": "Observation",
            "id": "dv-64c82675925d4",
            "meta": {
              "profile": [
                "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
              ]
            },
            "text": {
              "status": "generated",
              "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"
            },
            "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": "Patient/HG00403"
            },
            "effectiveDateTime": "2023-07-01",
            "performer": [
              {
                "reference": "Organization/ExampleOrg"
              }
            ],
            "valueCodeableConcept": {
              "coding": [
                {
                  "system": "http://loinc.org",
                  "code": "LA9633-4",
                  "display": "present"
                }
              ]
            },
            "component": [
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "48019-4",
                      "display": "DNA Change Type"
                    }
                  ]
                },
                "valueCodeableConcept": {
                  "coding": [
                    {
                      "system": "http://www.sequenceontology.org",
                      "code": "SO:0001019",
                      "display": "copy_number_variation"
                    }
                  ]
                }
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "48013-7",
                      "display": "Genomic reference sequence ID"
                    }
                  ]
                },
                "valueCodeableConcept": {
                  "coding": [
                    {
                      "system": "http://www.ncbi.nlm.nih.gov/refseq",
                      "code": "NC_000007.14"
                    }
                  ]
                }
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "48002-0",
                      "display": "Genomic Source Class"
                    }
                  ]
                },
                "valueCodeableConcept": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "LA6684-0",
                      "display": "Somatic"
                    }
                  ]
                }
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "82155-3",
                      "display": "Genomic Structural Variant copy Number"
                    }
                  ]
                },
                "valueQuantity": {
                  "value": 5,
                  "system": "http://unitsofmeasure.org",
                  "code": "1"
                }
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "69547-8",
                      "display": "Genomic Ref allele [ID]"
                    }
                  ]
                },
                "valueString": "T"
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "92822-6",
                      "display": "Genomic coord system"
                    }
                  ]
                },
                "valueCodeableConcept": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "LA30100-4",
                      "display": "0-based interval counting"
                    }
                  ]
                }
              },
              {
                "code": {
                  "coding": [
                    {
                      "system": "http://loinc.org",
                      "code": "81302-2"
                    }
                  ],
                  "text": "Variant inner start and end"
                },
                "valueRange": {
                  "low": {
                    "value": 116600000
                  },
                  "high": {
                    "value": 116800000
                  }
                }
              }
            ]
          }
        }
      ]
    }
  ]
}