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 Klinische Diagnose

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{
  "resourceType" : "Condition",
  "id" : "mii-exa-seltene-condition-sma-clinical",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-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-condition-sma-clinical</b></p><a name=\"de-mii-exa-seltene-condition-sma-clinical\"> </a><a name=\"de-hcmii-exa-seltene-condition-sma-clinical\"> </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-clinical-diagnosis.html\">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-22</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://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}\">Encounter Diagnosis</span></p><p><b>code</b>: <span title=\"Codes:{http://fhir.de/CodeSystem/bfarm/icd-10-gm G12.0}, {http://snomed.info/sct 64383006}, {http://www.orpha.net 83330}, {http://human-phenotype-ontology.org HP:0007373}\">Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</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>encounter</b>: <a href=\"Encounter-mii-exa-seltene-encounter-ambulant-001.html\">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --&gt; 2024-07-22</a></p><p><b>onset</b>: 2024-07-01</p><p><b>recordedDate</b>: 2024-07-22</p><h3>Evidences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:\">Klinische Präsentation</span></td><td><a href=\"Observation-mii-exa-seltene-observation-troponin-001.html\">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin</p>\n</div></blockquote></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
      "valueDateTime" : "2024-07-22"
    }
  ],
  "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://terminology.hl7.org/CodeSystem/condition-category",
          "code" : "encounter-diagnosis"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
        "version" : "2024",
        "code" : "G12.0",
        "display" : "Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]"
      },
      {
        "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"
      },
      {
        "system" : "http://human-phenotype-ontology.org",
        "code" : "HP:0007373",
        "display" : "Motor neuron atrophy"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
  },
  "encounter" : {
    🔗 "reference" : "Encounter/mii-exa-seltene-encounter-ambulant-001"
  },
  "onsetDateTime" : "2024-07-01",
  "recordedDate" : "2024-07-22",
  "evidence" : [
    {
      "code" : [
        {
          "text" : "Klinische Präsentation"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin"
    }
  ]
}