Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: FindSubjectStructuralIntersectingVariantsOutput - JSON Representation

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{
  "resourceType" : "Parameters",
  "id" : "FindSubjectStructuralIntersectingVariantsOutput",
  "parameter" : [
    {
      "name" : "variants",
      "part" : [
        {
          "name" : "rangeItem",
          "valueString" : "NC_000007.13:55242414-55242513"
        },
        {
          "name" : "presence",
          "valueBoolean" : true
        },
        {
          "name" : "variant",
          "resource" : {
            "resourceType" : "Observation",
            "id" : "dv-fff9d40035a04",
            "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:0000159",
                      "display" : "deletion"
                    }
                  ]
                }
              },
              {
                "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_000007.13"
                    }
                  ]
                }
              },
              {
                "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" : "69547-8",
                      "display" : "Genomic Ref allele [ID]"
                    }
                  ]
                },
                "valueString" : "G"
              },
              {
                "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" : 55240000
                  },
                  "high" : {
                    "value" : 55250000
                  }
                }
              }
            ]
          }
        }
      ]
    }
  ]
}