{
  "resourceType" : "Observation",
  "id" : "PrenatalDiagImpAlpha1ADPatientMale",
  "meta" : {
    "versionId" : "1",
    "lastUpdated" : "2024-09-25T00:01:34.798+00:00",
    "source" : "#hrQE3dHjuHuJ5zkf",
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation PrenatalDiagImpAlpha1ADPatientMale</b></p><a name=\"PrenatalDiagImpAlpha1ADPatientMale\"> </a><a name=\"hcPrenatalDiagImpAlpha1ADPatientMale\"> </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\">version: 1; Last updated: 2024-09-25 00:01:34+0000; </p><p style=\"margin-bottom: 0px\">Information Source: #hrQE3dHjuHuJ5zkf</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>Genomic Risk Assessment</b>: <a href=\"RiskAssessment-PrenatalResidualRiskAlpha1ADPatientMale.html\">alpha-1 antitrypsin deficiency Residual Risk</a></p><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 diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-PatientMale.html\">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-07-09</p><p><b>performer</b>: <a href=\"Practitioner-PractitionerLabDirector.html\">Practitioner PractitionerJane Smith </a></p><p><b>derivedFrom</b>: <a href=\"Observation-PrenatalVariant1SNPAlpha1ADPatientMale.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 47461006}\">Genetic disorder carrier (finding)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 30188007}\">Alpha-1-antitrypsin deficiency</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 condition-inheritance}\">Condition Inheritance</span></p><p><b>value</b>: <span title=\"Codes:\">Autosomal recessive inheritance</span></p></blockquote></div>"
  },
  "extension" : [{
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
    "valueReference" : {
      "reference" : "RiskAssessment/PrenatalResidualRiskAlpha1ADPatientMale",
      "display" : "alpha-1 antitrypsin deficiency Residual Risk"
    }
  }],
  "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" : "diagnostic-implication",
      "display" : "Diagnostic Implication"
    }]
  },
  "subject" : {
    "reference" : "Patient/PatientMale"
  },
  "effectiveDateTime" : "2024-07-09",
  "performer" : [{
    "reference" : "Practitioner/PractitionerLabDirector"
  }],
  "derivedFrom" : [{
    "reference" : "Observation/PrenatalVariant1SNPAlpha1ADPatientMale"
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81259-4",
        "display" : "Associated phenotype"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "47461006",
        "display" : "Genetic disorder carrier (finding)"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81259-4",
        "display" : "Associated phenotype"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "30188007",
        "display" : "Alpha-1-antitrypsin deficiency"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "condition-inheritance"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "code" : "HP:0000007",
        "display" : "Autosomal recessive inheritance"
      }]
    }
  }]
}