This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

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: SMA Genetische Diagnose

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{
  "resourceType" : "Condition",
  "id" : "mii-exa-seltene-condition-sma-genetic",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "extensions",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Condition mii-exa-seltene-condition-sma-genetic</b></p><a name=\"mii-exa-seltene-condition-sma-genetic\"> </a><a name=\"hcmii-exa-seltene-condition-sma-genetic\"> </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}\">Spinal muscular atrophy, type I</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient-sma-001.html\">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</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>: </p><ul><li><a href=\"Observation-mii-exa-seltene-variant-smn1-001.html\">Observation Genetic analysis master panel</a></li><li><a href=\"Observation-mii-exa-seltene-variant-smn2-001.html\">Observation Genetic analysis master panel</a></li></ul></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>0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.</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"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
  },
  "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-variant-smn1-001"
        },
        {
          🔗 "reference" : "Observation/mii-exa-seltene-variant-smn2-001"
        }
      ]
    },
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "405824009",
              "display" : "Genetic test"
            }
          ]
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."
    }
  ]
}