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

## : molec-conseq3 - JSON Representation

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    {
      "resourceType" : "Observation",
      "id" : "molec-conseq3",
      "meta" : {
        "profile" : [
          🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"
        ]
      },
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation molec-conseq3</b></p><a name=\"molec-conseq3\"> </a><a name=\"hcmolec-conseq3\"> </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-molecular-consequence.html\">Molecular Consequence</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 molecular-consequence}\">Molecular Consequence</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>interpretation</b>: <span title=\"Codes:{http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction MOD}\">Modifier</span></p><p><b>derivedFrom</b>: <a href=\"Observation-variant-with-molec-consequences.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">coding HGVS</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_001395543.1:c.-171T&gt;C}\">NM_001395543.1:c.-171T&gt;C</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_001395543.1}\">NM_001395543.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs feature-consequence}\">Feature Consequence</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001623}\">5_prime_UTR_variant</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" : "molecular-consequence"
          }
        ]
      },
      "subject" : {
        🔗 "reference" : "Patient/HG00403"
      },
      "effectiveDateTime" : "2023-06-01",
      "performer" : [
        {
          🔗 "reference" : "Organization/ExampleLab"
        }
      ],
      "interpretation" : [
        {
          "coding" : [
            {
              "system" : "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction",
              "code" : "MOD",
              "display" : "Modifier"
            }
          ]
        }
      ],
      "derivedFrom" : [
        {
          🔗 "reference" : "Observation/variant-with-molec-consequences"
        }
      ],
      "component" : [
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "48004-6"
              }
            ],
            "text" : "coding HGVS"
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://varnomen.hgvs.org",
                "code" : "NM_001395543.1:c.-171T>C",
                "display" : "NM_001395543.1:c.-171T>C"
              }
            ]
          }
        },
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "51958-7",
                "display" : "Transcript reference sequence [ID]"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                "code" : "NM_001395543.1",
                "display" : "NM_001395543.1"
              }
            ]
          }
        },
        {
          "code" : {
            "coding" : [
              {
                "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                "code" : "feature-consequence"
              }
            ]
          },
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.sequenceontology.org",
                "code" : "SO:0001623",
                "display" : "5_prime_UTR_variant"
              }
            ]
          }
        }
      ]
    }