Genomics Reporting Implementation Guide
3.0.0 - release International flag

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

: bundle-oncology-diagnostic - JSON Representation

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{
  "resourceType" : "Bundle",
  "id" : "bundle-oncology-diagnostic",
  "type" : "transaction",
  "entry" : [
    {
      "fullUrl" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d",
      "resource" : {
        "resourceType" : "Patient",
        "id" : "Inline-Instance-for-oncology-diagnostic-1",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_Inline-Instance-for-oncology-diagnostic-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient Inline-Instance-for-oncology-diagnostic-1</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-1\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-1\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-1-en-US\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Carrot John Mr  Male, DoB: 1962-12-31 ( 1007)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Patient Links\">Links:</td><td colspan=\"3\"><ul><li>General Practitioner: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></li></ul></td></tr></table></div>"
        },
        "identifier" : [
          {
            "value" : "1007"
          }
        ],
        "name" : [
          {
            "given" : [
              "Carrot",
              "John",
              "Mr"
            ]
          }
        ],
        "gender" : "male",
        "birthDate" : "1962-12-31",
        "generalPractitioner" : [
          {
            "reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Patient"
      }
    },
    {
      "fullUrl" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef",
      "resource" : {
        "resourceType" : "Practitioner",
        "id" : "Inline-Instance-for-oncology-diagnostic-2",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Practitioner_Inline-Instance-for-oncology-diagnostic-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Practitioner Inline-Instance-for-oncology-diagnostic-2</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-2\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-2\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-2-en-US\"> </a><p><b>identifier</b>: 4654765876</p><p><b>name</b>: Akerman Philip Prof </p><p><b>address</b>: Castro Valley CA </p></div>"
        },
        "identifier" : [
          {
            "value" : "4654765876"
          }
        ],
        "name" : [
          {
            "given" : [
              "Akerman",
              "Philip",
              "Prof"
            ]
          }
        ],
        "address" : [
          {
            "city" : "Castro Valley",
            "state" : "CA"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Practitioner"
      }
    },
    {
      "fullUrl" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d",
      "resource" : {
        "resourceType" : "Specimen",
        "id" : "Inline-Instance-for-oncology-diagnostic-3",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_Inline-Instance-for-oncology-diagnostic-3\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen Inline-Instance-for-oncology-diagnostic-3</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-3\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-3\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-3-en-US\"> </a><p><b>identifier</b>: 076e1948-2217-11e9-94d8-12e241dc1f66</p><p><b>status</b>: Available</p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collector</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></td></tr></table></div>"
        },
        "identifier" : [
          {
            "value" : "076e1948-2217-11e9-94d8-12e241dc1f66"
          }
        ],
        "status" : "available",
        "subject" : {
          "reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
        },
        "collection" : {
          "collector" : {
            "reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
          }
        }
      },
      "request" : {
        "method" : "POST",
        "url" : "Specimen"
      }
    },
    {
      "fullUrl" : "urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "Inline-Instance-for-oncology-diagnostic-4",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker"
          ]
        },
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-oncology-diagnostic-4\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-4</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-4\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-4\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-4-en-US\"> </a><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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></p><p><b>value</b>: 25 Mutations/Megabase<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1/1000000 = '1/1000000')</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</span></td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs molgen}\">molecular sequence adjacent category</span></td></tr></table></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                "code" : "biomarker-category"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "94076-7",
              "display" : "Mutations/Megabase [# Ratio] in Tumor"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
        },
        "effectiveDateTime" : "2019-03-05",
        "performer" : [
          {
            "reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
          }
        ],
        "valueQuantity" : {
          "value" : 25,
          "unit" : "Mutations/Megabase",
          "system" : "http://unitsofmeasure.org",
          "code" : "1/1000000"
        },
        "specimen" : {
          "reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                  "code" : "biomarker-category"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs",
                  "code" : "molgen",
                  "display" : "molecular sequence adjacent category"
                }
              ]
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "Inline-Instance-for-oncology-diagnostic-5",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
          ]
        },
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-oncology-diagnostic-5\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-5</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-5\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-5\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-5-en-US\"> </a><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://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000007.13:g.140453136A&gt;T}\">NC_000007.13:g.140453136A&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 13961}\">Clinvar ID 13961</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_004324.2:p.Val600Glu}\">NP_004324.2:p.Val600Glu</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:1097}\">BRAF</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://loinc.org",
              "code" : "69548-6",
              "display" : "Genetic variant assessment"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
        },
        "effectiveDateTime" : "2019-03-05",
        "performer" : [
          {
            "reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
          }
        ],
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA9633-4",
              "display" : "Present"
            }
          ]
        },
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26398-0",
              "display" : "Sequencing"
            }
          ]
        },
        "specimen" : {
          "reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "62374-4",
                  "display" : "Human reference sequence assembly version"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA14029-5",
                  "display" : "GRCh37"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81290-9",
                  "display" : "Genomic DNA change (gHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "NC_000007.13:g.140453136A>T",
                  "display" : "NC_000007.13:g.140453136A>T"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81252-9",
                  "display" : "Discrete genetic variant"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/clinvar",
                  "code" : "13961",
                  "display" : "Clinvar ID 13961"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48005-3",
                  "display" : "Amino acid change (pHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "NP_004324.2:p.Val600Glu",
                  "display" : "NP_004324.2:p.Val600Glu"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48018-6",
                  "display" : "Gene studied ID"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.genenames.org",
                  "code" : "HGNC:1097",
                  "display" : "BRAF"
                }
              ]
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "Inline-Instance-for-oncology-diagnostic-6",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
          ]
        },
        "text" : {
          "status" : "extensions",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-oncology-diagnostic-6\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-6</b></p><a name=\"Inline-Instance-for-oncology-diagnostic-6\"> </a><a name=\"hcInline-Instance-for-oncology-diagnostic-6\"> </a><a name=\"Inline-Instance-for-oncology-diagnostic-6-en-US\"> </a><p><b>Related artifact</b>: No display for RelatedArtifact  (type: justification; display: https://pmkb.weill.cornell.edu/therapies/103)</p><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=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">Bundle: type = transaction</a></p><p><b>effective</b>: 2019-03-05</p><p><b>performer</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">Bundle: type = transaction</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"Bundle-bundle-oncology-diagnostic.html#urn-uuid-a5d6a6a9-4859-480e-85b2-56974fef3b9d\">Bundle: type = transaction</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12d\">Bundle: type = transaction</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:\">melanoma</span></p></blockquote></div>"
        },
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
            "valueRelatedArtifact" : {
              "type" : "justification",
              "display" : "https://pmkb.weill.cornell.edu/therapies/103"
            }
          }
        ],
        "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" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
        },
        "effectiveDateTime" : "2019-03-05",
        "performer" : [
          {
            "reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
          }
        ],
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26811-2",
              "display" : "Computational analysis"
            }
          ]
        },
        "specimen" : {
          "reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
        },
        "derivedFrom" : [
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