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Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeClinicalImpression
IdClinicalImpression-clinical-impression-seltene-assessment.json
FHIR VersionR4

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Source1

{
  "resourceType": "ClinicalImpression",
  "id": "clinical-impression-seltene-assessment",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2026.0.0"
    ]
  },
  "status": "completed",
  "subject": {
    "reference": "Patient/patient-marfan-001"
  },
  "encounter": {
    "reference": "Encounter/encounter-cardiology"
  },
  "effectiveDateTime": "2024-12-15",
  "date": "2024-12-15",
  "problem": [
    {
      "reference": "Condition/condition-marfan-suspected"
    },
    {
      "reference": "Condition/condition-marfan-clinical"
    },
    {
      "reference": "Condition/condition-marfan-genetic"
    }
  ],
  "investigation": [
    {
      "code": {
        "text": "Echokardiographie"
      },
      "item": [
        {
          "reference": "Observation/observation-echo-aortic"
        },
        {
          "reference": "Observation/observation-echo-av"
        },
        {
          "reference": "Observation/observation-echo-mv"
        }
      ]
    }
  ],
  "summary": "19-jähriger Patient mit Z.n. Katarakt-OP im ZSE vorstellig. Kardiologische Mitbeurteilung zeigt: Aortenwurzeldilatation (48mm), AKI Grad II, MKI Grad I. Skelettale Merkmale (Hochwuchs 2,13m, Beinlängendifferenz) bestätigen Marfan-Syndrom. Klinische und genetische Diagnose gesichert.",
  "finding": [
    {
      "itemReference": {
        "reference": "Condition/condition-marfan-clinical"
      }
    },
    {
      "itemReference": {
        "reference": "Condition/condition-marfan-genetic"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "251036003",
            "display": "Aortic root dilatation"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/symptom-aortic-root"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "60234000",
            "display": "Aortic valve regurgitation"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/symptom-aortic-regurg"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "48724000",
            "display": "Mitral valve regurgitation"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/symptom-mitral-regurg"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "248328003",
            "display": "Tall stature"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/observation-height-001"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "707738004",
            "display": "Leg length discrepancy"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/observation-leg-asymmetry"
      }
    }
  ],
  "prognosisCodeableConcept": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "67334001",
          "display": "Guarded prognosis"
        }
      ]
    }
  ],
  "note": [
    {
      "text": "Katarakt in jungem Alter war Anlass für ZSE-Konsultation. Marfan-Syndrom klinisch und genetisch (FBN1-Mutation) bestätigt. OP-Indikation für Aortenwurzelersatz durch Kardiologie gestellt. Medikamentöse Therapie mit Losartan eingeleitet."
    },
    {
      "text": "Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen."
    }
  ]
}