Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: PolyGenicDiagnosticImpExample - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "PolyGenicDiagnosticImpExample",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"PolyGenicDiagnosticImpExample\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>Genomics Risk Assessment</b>: <a href=\"RiskAssessment-GenRiskDiabetesT2.html\">RiskAssessment/GenRiskDiabetesT2: Polygenic Risk Score</a></p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Diagnostic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Patient/CGPatientExample01</a> \" EVERYMAN\"</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization/ExampleOrg</a> \"some lab\"</p><p><b>derivedFrom</b>: </p><ul><li><span>: Variant 1</span></li><li><span>: Variant 2</span></li><li><span>: Variant 3</span></li><li><span>: Variant 4</span></li><li><span>: Variant 5</span></li><li><span>: Variant 6</span></li><li><span>: Variant 7</span></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53037-8)</span></p><p><b>value</b>: Pathogenic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6668-3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81259-4)</span></p><p><b>value</b>: Diabetes mellitus type 2 (disorder) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#44054006)</span></p></blockquote></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment",
      "valueReference" : {
        "reference" : "RiskAssessment/GenRiskDiabetesT2",
        "display" : "Polygenic Risk Score"
      }
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "diagnostic-implication"
      }
    ]
  },
  "subject" : {
    "reference" : "Patient/CGPatientExample01"
  },
  "performer" : [
    {
      "reference" : "Organization/ExampleOrg"
    }
  ],
  "derivedFrom" : [
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "11"
      },
      "display" : "Variant 1"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "12"
      },
      "display" : "Variant 2"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "13"
      },
      "display" : "Variant 3"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "14"
      },
      "display" : "Variant 4"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "15"
      },
      "display" : "Variant 5"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "16"
      },
      "display" : "Variant 6"
    },
    {
      "identifier" : {
        "system" : "http://hospital.example.org",
        "value" : "17"
      },
      "display" : "Variant 7"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53037-8"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6668-3",
            "display" : "Pathogenic"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "81259-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://snomed.info/sct",
            "code" : "44054006",
            "display" : "Diabetes mellitus type 2 (disorder)"
          }
        ]
      }
    }
  ]
}