Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: HaplotypeSet-Clinical-Trial-Example-1of2 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "HaplotypeSet-Clinical-Trial-Example-1of2",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></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 \"HaplotypeSet-Clinical-Trial-Example-1of2\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-haplotype.html\">Haplotype</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/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Patient/CGPatientExample01</a> \" EVERYMAN\"</p><p><b>effective</b>: 2018</p><p><b>value</b>: APOE1 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (clinvar#441262)</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample02.html\">Specimen/GenomicSpecimenExample02</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>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>APOE <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (geneId#HGNC:613)</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" : "84414-2"
      }
    ]
  },
  "subject" : {
    "reference" : "Patient/CGPatientExample01"
  },
  "effectiveDateTime" : "2018",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://www.ncbi.nlm.nih.gov/clinvar",
        "code" : "441262",
        "display" : "APOE1"
      }
    ]
  },
  "specimen" : {
    "reference" : "Specimen/GenomicSpecimenExample02"
  },
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:613",
            "display" : "APOE"
          }
        ]
      }
    }
  ]
}