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-ballot 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

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: pop-allele-freq - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "pop-allele-freq",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-annotation"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation pop-allele-freq</b></p><a name=\"pop-allele-freq\"> </a><a name=\"hcpop-allele-freq\"> </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-genomic-annotation.html\">Genomic Annotation</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 genomic-annotation}\">Genomic Annotation</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>derivedFrom</b>: <a href=\"Observation-variant-with-molec-consequences.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>KnowledgebaseAncestryGroup</b>: <span title=\"Codes:\">south asian</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92821-8}\">Allelic frequency in Population</span></p><p><b>value</b>: 0.01</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 knowledge-base}\">Knowledge Base</span></p><p><b>value</b>: <span title=\"Codes:\">gnomAD v3.1.2 Exomes</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 annotation-pipeline}\">Annotation Pipeline</span></p><p><b>value</b>: <span title=\"Codes:\">Oakvar v2.34</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" : "genomic-annotation"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/HG00403"
  },
  "effectiveDateTime" : "2023-06-01",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleLab"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/variant-with-molec-consequences"
    }
  ],
  "component" : [
    {
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group",
          "valueCodeableConcept" : {
            "text" : "south asian"
          }
        }
      ],
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "92821-8",
            "display" : "Allelic frequency in Population"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 0.01
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "knowledge-base"
          }
        ]
      },
      "valueCodeableConcept" : {
        "text" : "gnomAD v3.1.2 Exomes"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "annotation-pipeline"
          }
        ]
      },
      "valueCodeableConcept" : {
        "text" : "Oakvar v2.34"
      }
    }
  ]
}