{
  "resourceType" : "Condition",
  "id" : "mii-exa-seltene-example-sma-genetic-diagnosis",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"]
  },
  "language" : "de",
  "text" : {
    "status" : "extensions",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Condition mii-exa-seltene-example-sma-genetic-diagnosis</b></p><a name=\"de-mii-exa-seltene-example-sma-genetic-diagnosis\"> </a><a name=\"de-hcmii-exa-seltene-example-sma-genetic-diagnosis\"> </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-mii-pr-seltene-genetic-diagnosis.html\">MII PR SE Genetic Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-26</p><p><b>clinicalStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}\">Active</span></p><p><b>verificationStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}\">Confirmed</span></p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 782964007}\">Genetic disease</span></p><p><b>code</b>: <span title=\"Codes:{http://omim.org 253300}, {http://snomed.info/sct 64383006}, {http://www.orpha.net 83330}\">Spinale Muskelatrophie Typ 1, genetisch bestätigt</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient.html\">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>encounter</b>: <a href=\"Encounter-mii-exa-seltene-encounter-genetic-consultation.html\">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Genetic counseling; period = 2024-09-15 --&gt; 2024-09-15</a></p><p><b>onset</b>: 2024-07-01</p><p><b>recordedDate</b>: 2024-07-26</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 106221001}\">Genetic finding</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-molgen-variant-smn1-deletion.html\">Observation Genetic variant assessment</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 405824009}\">Genetic test</span></p><p><b>detail</b>: <a href=\"DiagnosticReport-mii-exa-seltene-molgen-diagnostic-implication-sma.html\">Diagnostic Report for 'Genetic analysis report' for '-&gt;Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'</a></p></blockquote><p><b>note</b>: </p><blockquote><div><p>Homozygote Deletion des SMN1-Gens nachgewiesen. 0 Kopien SMN1, 2 Kopien SMN2. Diagnose molekulargenetisch gesichert.</p>\n</div></blockquote></div>"
  },
  "extension" : [{
    "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
    "valueDateTime" : "2024-07-26"
  }],
  "clinicalStatus" : {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
      "code" : "active"
    }]
  },
  "verificationStatus" : {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
      "code" : "confirmed"
    }]
  },
  "category" : [{
    "coding" : [{
      "system" : "http://snomed.info/sct",
      "code" : "782964007",
      "display" : "Genetic disease"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://omim.org",
      "version" : "2024",
      "code" : "253300",
      "display" : "Spinal muscular atrophy, type I"
    },
    {
      "system" : "http://snomed.info/sct",
      "code" : "64383006",
      "display" : "Werdnig-Hoffmann disease"
    },
    {
      "system" : "http://www.orpha.net",
      "code" : "83330",
      "display" : "Proximal spinal muscular atrophy type 1"
    }],
    "text" : "Spinale Muskelatrophie Typ 1, genetisch bestätigt"
  },
  "subject" : {
    "reference" : "Patient/mii-exa-seltene-patient"
  },
  "encounter" : {
    "reference" : "Encounter/mii-exa-seltene-encounter-genetic-consultation"
  },
  "onsetDateTime" : "2024-07-01",
  "recordedDate" : "2024-07-26",
  "evidence" : [{
    "code" : [{
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "106221001",
        "display" : "Genetic finding"
      }]
    }],
    "detail" : [{
      "reference" : "Observation/mii-exa-seltene-molgen-variant-smn1-deletion"
    }]
  },
  {
    "code" : [{
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "405824009",
        "display" : "Genetic test"
      }]
    }],
    "detail" : [{
      "reference" : "DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma"
    }]
  }],
  "note" : [{
    "text" : "Homozygote Deletion des SMN1-Gens nachgewiesen. 0 Kopien SMN1, 2 Kopien SMN2. Diagnose molekulargenetisch gesichert."
  }]
}