MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

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

: Marfan-Syndrom - Klinische Diagnose

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{
  "resourceType" : "Condition",
  "id" : "mii-exa-seltene-example-marfan-clinical-diagnosis",
  "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-example-marfan-clinical-diagnosis</b></p><a name=\"de-mii-exa-seltene-example-marfan-clinical-diagnosis\"> </a><a name=\"de-hcmii-exa-seltene-example-marfan-clinical-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-clinical-diagnosis.html\">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-12-15</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 provisional}\">Provisional</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://omim.org 154700}, {http://snomed.info/sct 19346006}, {http://www.orpha.net 558}\">Marfan-Syndrom, klinisch diagnostiziert</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-cardiology-consultation.html\">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Seen in cardiac clinic (finding); period = 2024-12-15 --&gt; 2024-12-15</a></p><p><b>recordedDate</b>: 2024-12-15</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0002616}\">Aortenwurzeldilatation</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-aortic-root-dilatation.html\">Observation Aortic root aneurysm</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0001083}\">Linsenluxation</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-lens-dislocation.html\">Observation Ectopia lentis</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000098}\">Hochwuchs</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-tall-stature.html\">Observation Tall stature</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0001166}\">Arachnodaktylie</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-arachnodactyly.html\">Observation Arachnodactyly</a></p></blockquote><p><b>note</b>: </p><blockquote><div><p>Klinische Diagnose basierend auf Ghent-Kriterien. Patient erfüllt Major-Kriterien in kardiovaskulärem und ophthalmologischem System. Genetische Testung wird veranlasst.</p>\n</div></blockquote></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
      "valueDateTime" : "2024-12-15"
    }
  ],
  "clinicalStatus" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
        "code" : "active"
      }
    ]
  },
  "verificationStatus" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
        "code" : "provisional"
      }
    ]
  },
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/condition-category",
          "code" : "encounter-diagnosis"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://omim.org",
        "version" : "2024",
        "code" : "154700",
        "display" : "Marfan syndrome"
      },
      {
        "system" : "http://snomed.info/sct",
        "code" : "19346006",
        "display" : "Marfan syndrome"
      },
      {
        "system" : "http://www.orpha.net",
        "code" : "558",
        "display" : "Marfan syndrome"
      }
    ],
    "text" : "Marfan-Syndrom, klinisch diagnostiziert"
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient"
  },
  "encounter" : {
    🔗 "reference" : "Encounter/mii-exa-seltene-encounter-cardiology-consultation"
  },
  "recordedDate" : "2024-12-15",
  "evidence" : [
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://human-phenotype-ontology.org",
              "code" : "HP:0002616",
              "display" : "Aortic root aneurysm"
            }
          ],
          "text" : "Aortenwurzeldilatation"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-aortic-root-dilatation"
        }
      ]
    },
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://human-phenotype-ontology.org",
              "code" : "HP:0001083",
              "display" : "Ectopia lentis"
            }
          ],
          "text" : "Linsenluxation"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-lens-dislocation"
        }
      ]
    },
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://human-phenotype-ontology.org",
              "code" : "HP:0000098",
              "display" : "Tall stature"
            }
          ],
          "text" : "Hochwuchs"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-tall-stature"
        }
      ]
    },
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://human-phenotype-ontology.org",
              "code" : "HP:0001166",
              "display" : "Arachnodactyly"
            }
          ],
          "text" : "Arachnodaktylie"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-arachnodactyly"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "Klinische Diagnose basierend auf Ghent-Kriterien. Patient erfüllt Major-Kriterien in kardiovaskulärem und ophthalmologischem System. Genetische Testung wird veranlasst."
    }
  ]
}