Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

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: Phenopackets Genomic Interpretation Example-2 - JSON Representation

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{
  "resourceType" : "DiagnosticReport",
  "id" : "PhenopacketsGenomicInterpretationExample02",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/phenopackets-genomic-interpretation"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes:{http://loinc 123}\">some loinc code</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td><b>John Doe </b> unknown, DoB Unknown ( 04\u00a0(use:\u00a0temp))</td></tr><tr><td>Identifier:</td><td> 02</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td></tr><tr><td><a href=\"Observation-PhenopacketsVariantExample01.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td/></tr></table><p>A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://snomed.info/sct 783549006}\">Obesity due to centrosomal protein 19 deficiency (disorder)</span></li></ul></div>"
  },
  "modifierExtension" : [
    {
      "url" : "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/interpretation-status",
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://phenopacket-schema.readthedocs.io/en/v2/genomic-interpretation.html#interpretationstatus",
            "code" : "0",
            "display" : "UNKNOWN_STATUS"
          }
        ]
      }
    }
  ],
  "identifier" : [
    {
      "value" : "02"
    }
  ],
  "status" : "unknown",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc",
        "code" : "123",
        "display" : "some loinc code"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/phenopacketPatientExample01"
  },
  "specimen" : [
    {
      🔗 "reference" : "Specimen/phenopacketSpecimenExample01"
    }
  ],
  "result" : [
    {
      🔗 "reference" : "Observation/PhenopacketsVariantExample01"
    }
  ],
  "conclusion" : "A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.",
  "conclusionCode" : [
    {
      "coding" : [
        {
          "system" : "http://snomed.info/sct",
          "code" : "783549006",
          "display" : "Obesity due to centrosomal protein 19 deficiency (disorder)"
        }
      ]
    }
  ]
}