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

: HaplotypeSet-Clinical-Trial-Example-2of2 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "HaplotypeSet-Clinical-Trial-Example-2of2",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation HaplotypeSet-Clinical-Trial-Example-2of2</b></p><a name=\"HaplotypeSet-Clinical-Trial-Example-2of2\"> </a><a name=\"hcHaplotypeSet-Clinical-Trial-Example-2of2\"> </a><a name=\"HaplotypeSet-Clinical-Trial-Example-2of2-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 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Adam B. Everyman  Male, DoB: 1951-01-20 ( Medical Record Number: m123\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 441262}\">APOE1</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample02.html\">Specimen: identifier = http://myorgsurl.com#123; accessionIdentifier = http://mylabsurl.com#456; status = available; type = Buccal smear sample</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://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:613}\">APOE</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" : "84414-2"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/CGPatientExample01"
  },
  "effectiveDateTime" : "2019-04-01",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleOrg"
    }
  ],
  "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",
            "code" : "HGNC:613",
            "display" : "APOE"
          }
        ]
      }
    }
  ]
}