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

## : diagnosticImplication-interact-smn1-smn2 - JSON Representation

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    {
      "resourceType" : "Observation",
      "id" : "diagnosticImplication-interact-smn1-smn2",
      "meta" : {
        "profile" : [
          🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
        ]
      },
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation diagnosticImplication-interact-smn1-smn2</b></p><a name=\"diagnosticImplication-interact-smn1-smn2\"> </a><a name=\"hcdiagnosticImplication-interact-smn1-smn2\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: A Newborn</p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>derivedFrom</b>: <a href=\"Observation-obs1-interact-smn1-smn2.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 5262007}\">Spinal muscular atrophy (SMA)</span></p></blockquote></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",
            "display" : "Diagnostic Implication"
          }
        ]
      },
      "subject" : {
        "display" : "A Newborn"
      },
      "effectiveDateTime" : "2019-04-01",
      "performer" : [
        {
          🔗 "reference" : "Organization/ExampleOrg"
        }
      ],
      "method" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA26811-2",
            "display" : "Computational analysis"
          }
        ]
      },
      "derivedFrom" : [
        {
          🔗 "reference" : "Observation/obs1-interact-smn1-smn2"
        }
      ],
      "component" : [
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "53037-8",
                "display" : "Genetic variation clinical significance [Imp]"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "LA6668-3",
                "display" : "Pathogenic"
              }
            ]
          }
        },
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "93044-6",
                "display" : "Level of Evidence"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "LA30200-2",
                "display" : "Very strong evidence pathogenic"
              }
            ]
          }
        },
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "81259-4"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "5262007",
                "display" : "Spinal muscular atrophy (disorder)"
              }
            ],
            "text" : "Spinal muscular atrophy (SMA)"
          }
        }
      ]
    }