Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - Observation PGx Genotype 2 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "Pgx-geno-1002",
  "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</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20</a></p><p><b>effective</b>: 2020-01-01</p><p><b>value</b>: <span title=\"Codes: \">CYP2C9*1/*1</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample01.html\">Generated Summary: status: available; <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0487 TISS}\">Tissue</span></a></p><p><b>derivedFrom</b>: <a href=\"Observation-Pgx-var-1021.html\">Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></p><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes: {http://www.genenames.org/geneId HGNC:2623}\">CYP2C9</span></td></tr></table></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "84413-4"
      }
    ]
  },
  "subject" : {
    "reference" : "Patient/CGPatientExample01"
  },
  "effectiveDateTime" : "2020-01-01",
  "valueCodeableConcept" : {
    "text" : "CYP2C9*1/*1"
  },
  "specimen" : {
    "reference" : "Specimen/GenomicSpecimenExample01"
  },
  "derivedFrom" : [
    {
      "reference" : "Observation/Pgx-var-1021"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:2623",
            "display" : "CYP2C9"
          }
        ]
      }
    }
  ]
}