Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## : FindSubjectDxImplicationsOutput - JSON Representation

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    {
      "resourceType" : "Parameters",
      "id" : "FindSubjectDxImplicationsOutput",
      "parameter" : [
        {
          "name" : "implication",
          "resource" : {
            "resourceType" : "Observation",
            "id" : "DiagnosticImplicationExample",
            "meta" : {
              "profile" : [
                🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
              ]
            },
            "text" : {
              "status" : "generated",
              "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">Pathogenic - Malignant hyperthermia</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                  "code" : "diagnostic-implication"
                }
              ]
            },
            "subject" : {
              🔗 "reference" : "Patient/HG00403"
            },
            "effectiveDateTime" : "2023-04-01",
            "performer" : [
              {
                🔗 "reference" : "Organization/ExampleOrg"
              }
            ],
            "derivedFrom" : [
              {
                🔗 "reference" : "Observation/VariantExample2"
              }
            ],
            "component" : [
              {
                "code" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "53037-8"
                    }
                  ],
                  "text" : "Genetic variation clinical significance"
                },
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "LA6668-3",
                      "display" : "Pathogenic"
                    }
                  ]
                }
              },
              {
                "code" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "81259-4"
                    }
                  ],
                  "text" : "Predicted phenotype"
                },
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://snomed.info/sct",
                      "code" : "405501007",
                      "display" : "Malignant hyperthermia"
                    }
                  ]
                }
              }
            ]
          }
        },
        {
          "name" : "variant",
          "resource" : {
            "resourceType" : "Observation",
            "id" : "variantExample2",
            "meta" : {
              "profile" : [
                🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
              ]
            },
            "text" : {
              "status" : "generated",
              "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">NC_000019.10:g.38499669C&gt;T</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" : "2023-04-01",
            "performer" : [
              {
                🔗 "reference" : "Organization/ExampleOrg"
              }
            ],
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA9633-4",
                  "display" : "Present"
                }
              ]
            },
            "component" : [
              {
                "code" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "48002-0",
                      "display" : "Genomic source class [Type]"
                    }
                  ]
                },
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "LA6683-2",
                      "display" : "Germline"
                    }
                  ]
                }
              },
              {
                "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_000019.10"
                    }
                  ]
                }
              },
              {
                "code" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "69547-8",
                      "display" : "Genomic Ref allele [ID]"
                    }
                  ]
                },
                "valueString" : "C"
              },
              {
                "code" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "69551-0",
                      "display" : "Genomic Alt 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" : "81254-5"
                    }
                  ],
                  "text" : "Genomic allele start-end"
                },
                "valueRange" : {
                  "low" : {
                    "value" : 38499669
                  }
                }
              }
            ]
          }
        }
      ]
    }