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

## : ATR-insertion-significance - JSON Representation

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    {
      "resourceType" : "Observation",
      "id" : "ATR-insertion-significance",
      "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 class=\"res-header-id\"><b>Generated Narrative: Observation ATR-insertion-significance</b></p><a name=\"ATR-insertion-significance\"> </a><a name=\"hcATR-insertion-significance\"> </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 href=\"Patient-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567\u00a0(use:\u00a0temp,\u00a0period:\u00a02021-01-01 --&gt; (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href=\"Practitioner-pathologistPractitioner.html\">Practitioner Test Dolin </a></p><p><b>derivedFrom</b>: <a href=\"Observation-ATR-insertion-var.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 LA26332-9}\">Likely Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)</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:\">Tier 2C</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; url: https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient)</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more</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" : {
        🔗 "reference" : "Patient/somaticPatient"
      },
      "effectiveDateTime" : "2023-02-01",
      "performer" : [
        {
          🔗 "reference" : "Practitioner/pathologistPractitioner"
        }
      ],
      "derivedFrom" : [
        {
          🔗 "reference" : "Observation/ATR-insertion-var"
        }
      ],
      "component" : [
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "53037-8",
                "display" : "Genetic variation clinical significance [Imp]"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "LA26332-9",
                "display" : "Likely Pathogenic"
              }
            ]
          }
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
              "valueRelatedArtifact" : {
                "type" : "citation",
                "url" : "https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"
              }
            }
          ],
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "93044-6",
                "display" : "Level of evidence"
              }
            ]
          },
          "valueCodeableConcept" : {
            "text" : "Tier 2C"
          }
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
              "valueRelatedArtifact" : {
                "type" : "citation",
                "url" : "https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient"
              }
            }
          ],
          "code" : {
            "coding" : [
              {
                "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                "code" : "conclusion-string"
              }
            ]
          },
          "valueString" : "The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more"
        }
      ]
    }