Genomics Reporting Implementation Guide
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This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Pgx-geno-1001 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "Pgx-geno-1001",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"Pgx-geno-1001\"> </a></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 Observation &quot;Pgx-geno-1001&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><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/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genotype display name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Patient/CGPatientExample01</a> &quot; EVERYMAN&quot;</p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization/ExampleOrg</a> &quot;some lab&quot;</p><p><b>value</b>: CYP2C19*2/*2 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-ClinVarV.html\">ClinVar Variant ID</a>#638797)</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample01.html\">Specimen/GenomicSpecimenExample01</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Observation-Pgx-var-1011.html\">Observation/Pgx-var-1011</a></li><li><a href=\"Observation-Pgx-var-1012.html\">Observation/Pgx-var-1012</a></li><li><a href=\"Observation-Pgx-var-1013.html\">Observation/Pgx-var-1013</a></li><li><a href=\"Observation-Pgx-var-1014.html\">Observation/Pgx-var-1014</a></li><li><a href=\"Observation-Pgx-var-1015.html\">Observation/Pgx-var-1015</a></li><li><a href=\"Observation-Pgx-var-1016.html\">Observation/Pgx-var-1016</a></li><li><a href=\"Observation-Pgx-var-1017.html\">Observation/Pgx-var-1017</a></li><li><a href=\"Observation-Pgx-var-1018.html\">Observation/Pgx-var-1018</a></li></ul><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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>CYP2C19 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:2621)</span></td></tr></table></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" : "84413-4"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/CGPatientExample01"
  },
  "effectiveDateTime" : "2019-04-01",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleOrg"
    }
  ],
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://www.ncbi.nlm.nih.gov/clinvar",
        "code" : "638797",
        "display" : "CYP2C19*2/*2"
      }
    ]
  },
  "specimen" : {
    🔗 "reference" : "Specimen/GenomicSpecimenExample01"
  },
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/Pgx-var-1011"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1012"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1013"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1014"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1015"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1016"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1017"
    },
    {
      🔗 "reference" : "Observation/Pgx-var-1018"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org",
            "code" : "HGNC:2621",
            "display" : "CYP2C19"
          }
        ]
      }
    }
  ]
}