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

: SMA Fallbeispiel - Vollständiges Transaction Bundle

Raw json | Download

{
  "resourceType" : "Bundle",
  "id" : "mii-exa-seltene-bundle-sma-complete",
  "language" : "de",
  "type" : "transaction",
  "timestamp" : "2024-08-12T14:00:00Z",
  "entry" : [
    {
      "fullUrl" : "urn:uuid:6830d99e-9bbe-48ed-8927-ff28eadc42e0",
      "resource" : {
        "resourceType" : "Patient",
        "id" : "mii-exa-seltene-patient-sma-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "identifier" : [
          {
            "system" : "https://www.medizininformatik-initiative.de/fhir/sid/patient-id",
            "value" : "SMA-2024-001"
          }
        ],
        "gender" : "female",
        "birthDate" : "2024-07-01"
      },
      "request" : {
        "method" : "POST",
        "url" : "Patient"
      }
    },
    {
      "fullUrl" : "urn:uuid:117180a6-0392-47c5-8841-aa5b57d0e47e",
      "resource" : {
        "resourceType" : "Condition",
        "id" : "mii-exa-seltene-condition-sma-suspected",
        "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"
        },
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
            "valueDateTime" : "2024-07-18"
          }
        ],
        "clinicalStatus" : {
          "coding" : [
            {
              "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
              "code" : "active"
            }
          ]
        },
        "verificationStatus" : {
          "coding" : [
            {
              "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
              "code" : "unconfirmed"
            }
          ]
        },
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/condition-category",
                "code" : "encounter-diagnosis"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "64383006",
              "display" : "Werdnig-Hoffmann disease"
            },
            {
              "system" : "http://human-phenotype-ontology.org",
              "code" : "HP:0007373",
              "display" : "Motor neuron atrophy"
            }
          ],
          "text" : "Verdacht auf Spinale Muskelatrophie"
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "encounter" : {
          🔗 "reference" : "Encounter/mii-exa-seltene-encounter-screening-001"
        },
        "recordedDate" : "2024-07-18",
        "evidence" : [
          {
            "code" : [
              {
                "text" : "Positives Neugeborenenscreening"
              }
            ],
            "detail" : [
              {
                🔗 "reference" : "Observation/mii-exa-seltene-observation-sma-screening"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Condition"
      }
    },
    {
      "fullUrl" : "urn:uuid:7041e5af-feab-4650-af1b-e2051ba0a95a",
      "resource" : {
        "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"
        },
        "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"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Condition"
      }
    },
    {
      "fullUrl" : "urn:uuid:9596df71-0f1b-495f-bf1c-16708dc952bf",
      "resource" : {
        "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" : "de",
        "text" : {
          "status" : "extensions"
        },
        "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."
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Condition"
      }
    },
    {
      "fullUrl" : "urn:uuid:00e23000-f21c-470d-8f71-1942f0f72efe",
      "resource" : {
        "resourceType" : "FamilyMemberHistory",
        "id" : "mii-exa-seltene-family-history-001",
        "meta" : {
          "profile" : [
            🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-familienanamnese|2027.0.0-ballot"
          ]
        },
        "language" : "de",
        "text" : {
          "status" : "extensions"
        },
        "extension" : [
          {
            "url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen",
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "261665006",
                  "display" : "Unknown"
                }
              ]
            }
          }
        ],
        "status" : "completed",
        "patient" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "date" : "2024-07-22",
        "relationship" : {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "78652007",
              "display" : "Great grandmother"
            }
          ]
        },
        "condition" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "129565002",
                  "display" : "Disorder of muscle"
                }
              ],
              "text" : "Unbekannte Muskelerkrankung"
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "FamilyMemberHistory"
      }
    },
    {
      "fullUrl" : "urn:uuid:07ff35a6-561b-4a3b-bfc0-be528e6ab5a4",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-sma-screening",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "92005-8",
              "display" : "Spinal muscular atrophy newborn screening panel"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-18",
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "260373001",
              "display" : "Detected"
            }
          ]
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "A",
                "display" : "Abnormal"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen."
          }
        ],
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92004-1",
                  "display" : "Spinal muscular atrophy newborn screen interpretation"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92002-5",
                  "display" : "SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 0,
              "unit" : "Ct",
              "system" : "http://unitsofmeasure.org",
              "code" : "1"
            },
            "interpretation" : [
              {
                "coding" : [
                  {
                    "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                    "code" : "A",
                    "display" : "Abnormal"
                  }
                ]
              }
            ]
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:89231fbc-2218-499e-b3f5-c11368975c6e",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-variant-smn1-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "55233-1",
              "display" : "Genetic analysis master panel"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-26",
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "10828004",
              "display" : "Positive"
            }
          ]
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "POS",
                "display" : "Positive"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA"
          }
        ],
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48018-6",
                  "display" : "Gene studied [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.genenames.org/geneId",
                  "code" : "HGNC:11117",
                  "display" : "SMN1"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "62374-4",
                  "display" : "Human reference sequence assembly version"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "GRCh38"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53034-5",
                  "display" : "Allelic state"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA6705-3",
                  "display" : "Homozygous"
                }
              ]
            }
          },
          {
            "code" : {
              "text" : "Copy Number"
            },
            "valueQuantity" : {
              "value" : 0,
              "unit" : "copies"
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:3325c12d-0646-433e-8e46-042168eccf92",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-variant-smn2-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "55233-1",
              "display" : "Genetic analysis master panel"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-26",
        "note" : [
          {
            "text" : "2 Kopien des SMN2-Gens, Modifikator des Phänotyps"
          }
        ],
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48018-6",
                  "display" : "Gene studied [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.genenames.org/geneId",
                  "code" : "HGNC:11118",
                  "display" : "SMN2"
                }
              ]
            }
          },
          {
            "code" : {
              "text" : "Copy Number"
            },
            "valueQuantity" : {
              "value" : 2,
              "unit" : "copies"
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:127dc51a-19ad-44ff-bf75-b1804d232109",
      "resource" : {
        "resourceType" : "Procedure",
        "id" : "mii-exa-seltene-procedure-gentherapy-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "completed",
        "category" : {
          "coding" : [
            {
              "system" : "http://snomed.info/sct",
              "code" : "277132007",
              "display" : "Therapeutic procedure"
            }
          ]
        },
        "code" : {
          "coding" : [
            {
              "system" : "http://fdasis.nlm.nih.gov",
              "code" : "MLU3LU3EVV",
              "display" : "ONASEMNOGENE ABEPARVOVEC"
            },
            {
              "system" : "http://snomed.info/sct",
              "code" : "788110002",
              "display" : "Onasemnogene abeparvovec"
            }
          ],
          "text" : "Gentherapie mit Onasemnogene abeparvovec (Zolgensma)"
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "performedDateTime" : "2024-07-29",
        "reasonReference" : [
          {
            🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
          }
        ],
        "note" : [
          {
            "text" : "Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Procedure"
      }
    },
    {
      "fullUrl" : "urn:uuid:ccdcbdd3-8153-4ef2-8d76-1ee0f681328b",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-alt-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "1742-6",
              "display" : "Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-29",
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "N",
                "display" : "Normal"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Normwertig post-therapeutisch"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:bb92ee35-b577-42a8-bf9a-b51cbe5debae",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-ast-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "1920-8",
              "display" : "Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-29",
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "N",
                "display" : "Normal"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Normwertig post-therapeutisch"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:38b52a28-bfa6-451f-8dad-9d0b8a8466bc",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-plt-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "777-3",
              "display" : "Platelets [#/volume] in Blood by Automated count"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-29",
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "N",
                "display" : "Normal"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Normwertig post-therapeutisch"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:ab5b69cf-4eae-4aa3-8ce4-5b5eb1a4a46a",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-troponin-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "6598-7",
              "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-22",
        "valueQuantity" : {
          "value" : 92,
          "unit" : "ng/L",
          "system" : "http://unitsofmeasure.org",
          "code" : "ng/L"
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "H",
                "display" : "High"
              }
            ]
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:23b8775e-4704-4037-930e-68d1628cf0b8",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-troponin-002",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "6598-7",
              "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-07-28",
        "valueQuantity" : {
          "value" : 58,
          "unit" : "ng/L",
          "system" : "http://unitsofmeasure.org",
          "code" : "ng/L"
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "H",
                "display" : "High"
              }
            ]
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:7d919637-556d-441d-8145-706eb3543fa3",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-troponin-003",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "6598-7",
              "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-08-01",
        "valueQuantity" : {
          "value" : 57,
          "unit" : "ng/L",
          "system" : "http://unitsofmeasure.org",
          "code" : "ng/L"
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "H",
                "display" : "High"
              }
            ]
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:0ccc9861-03d4-403b-a650-a9f24d64a615",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-seltene-observation-troponin-004",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "6598-7",
              "display" : "Troponin T.cardiac [Mass/volume] in Serum or Plasma"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "effectiveDateTime" : "2024-08-12",
        "valueQuantity" : {
          "value" : 106,
          "unit" : "ng/L",
          "system" : "http://unitsofmeasure.org",
          "code" : "ng/L"
        },
        "interpretation" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
                "code" : "H",
                "display" : "High"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Troponin T weiter erhöht, bereits prä-therapeutisch erhöht"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Observation"
      }
    },
    {
      "fullUrl" : "urn:uuid:81c1e902-ea19-4d32-adbf-3ee234509cf6",
      "resource" : {
        "resourceType" : "ClinicalImpression",
        "id" : "mii-exa-seltene-clinical-impression-erstvorstellung",
        "meta" : {
          "profile" : [
            🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"
          ]
        },
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "completed",
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "encounter" : {
          🔗 "reference" : "Encounter/mii-exa-seltene-encounter-ambulant-001"
        },
        "effectiveDateTime" : "2024-07-22",
        "date" : "2024-07-22",
        "problem" : [
          {
            🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-suspected"
          }
        ],
        "investigation" : [
          {
            "code" : {
              "text" : "Familienanamnese"
            },
            "item" : [
              {
                🔗 "reference" : "FamilyMemberHistory/mii-exa-seltene-family-history-001"
              }
            ]
          },
          {
            "code" : {
              "text" : "Labordiagnostik"
            },
            "item" : [
              {
                🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
              }
            ]
          }
        ],
        "summary" : "Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).",
        "finding" : [
          {
            "itemReference" : {
              🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-clinical"
            }
          },
          {
            "itemReference" : {
              🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
            }
          },
          {
            "itemCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "1363512008",
                  "display" : "Troponin above reference range"
                }
              ]
            },
            "itemReference" : {
              🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
            }
          }
        ],
        "prognosisCodeableConcept" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "67334001",
                "display" : "Guarded prognosis"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst."
          },
          {
            "text" : "Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert."
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "ClinicalImpression"
      }
    },
    {
      "fullUrl" : "urn:uuid:b764f4a2-50c0-4624-ad49-8eb9405aaf9d",
      "resource" : {
        "resourceType" : "ClinicalImpression",
        "id" : "mii-exa-seltene-clinical-impression-nachsorge",
        "meta" : {
          "profile" : [
            🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"
          ]
        },
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "completed",
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "encounter" : {
          🔗 "reference" : "Encounter/mii-exa-seltene-encounter-nachsorge-001"
        },
        "effectiveDateTime" : "2024-08-12",
        "date" : "2024-08-12",
        "previous" : {
          🔗 "reference" : "ClinicalImpression/mii-exa-seltene-clinical-impression-erstvorstellung"
        },
        "problem" : [
          {
            🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-clinical"
          },
          {
            🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
          }
        ],
        "summary" : "Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.",
        "finding" : [
          {
            "itemCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "1363512008",
                  "display" : "Troponin above reference range"
                }
              ]
            },
            "itemReference" : {
              🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-004"
            },
            "basis" : "Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l"
          },
          {
            "itemCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "166645004",
                  "display" : "Alanine aminotransferase level within reference range"
                }
              ]
            },
            "basis" : "ALT normwertig"
          },
          {
            "itemCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "166667003",
                  "display" : "Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range"
                }
              ]
            },
            "basis" : "AST normwertig"
          },
          {
            "itemCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "165555003",
                  "display" : "Platelet count normal"
                }
              ]
            },
            "basis" : "Thrombozytenzahl normwertig"
          }
        ],
        "prognosisCodeableConcept" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "67334001",
                "display" : "Guarded prognosis"
              }
            ]
          }
        ],
        "note" : [
          {
            "text" : "Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll"
          },
          {
            "text" : "Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen."
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "ClinicalImpression"
      }
    },
    {
      "fullUrl" : "urn:uuid:8320638f-eca2-4586-b173-bd0c49d9ae9d",
      "resource" : {
        "resourceType" : "Encounter",
        "id" : "mii-exa-seltene-encounter-screening-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "finished",
        "class" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
          "code" : "AMB",
          "display" : "ambulatory"
        },
        "type" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "60151004",
                "display" : "Neonatal screening (procedure)"
              }
            ]
          }
        ],
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "period" : {
          "start" : "2024-07-18",
          "end" : "2024-07-18"
        },
        "reasonCode" : [
          {
            "text" : "Neugeborenenscreening"
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Encounter"
      }
    },
    {
      "fullUrl" : "urn:uuid:98afd481-d1d6-4c2e-9d1c-51c651964e5f",
      "resource" : {
        "resourceType" : "Encounter",
        "id" : "mii-exa-seltene-encounter-ambulant-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "finished",
        "class" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
          "code" : "AMB",
          "display" : "ambulatory"
        },
        "type" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "390906007",
                "display" : "Follow-up encounter"
              }
            ]
          }
        ],
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "period" : {
          "start" : "2024-07-22",
          "end" : "2024-07-22"
        },
        "diagnosis" : [
          {
            "condition" : {
              🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-clinical"
            },
            "use" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
                  "code" : "AD",
                  "display" : "Admission diagnosis"
                }
              ]
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Encounter"
      }
    },
    {
      "fullUrl" : "urn:uuid:bdb5bd40-064b-4b79-aab6-8d9cc9db4873",
      "resource" : {
        "resourceType" : "Encounter",
        "id" : "mii-exa-seltene-encounter-stationaer-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "finished",
        "class" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
          "code" : "IMP",
          "display" : "inpatient encounter"
        },
        "type" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "32485007",
                "display" : "Hospital admission"
              }
            ]
          }
        ],
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "period" : {
          "start" : "2024-07-29",
          "end" : "2024-07-30"
        },
        "diagnosis" : [
          {
            "condition" : {
              🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
            },
            "use" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
                  "code" : "CC",
                  "display" : "Chief complaint"
                }
              ]
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Encounter"
      }
    },
    {
      "fullUrl" : "urn:uuid:f8e29cb1-a8a9-4d56-ac0e-65fca096f860",
      "resource" : {
        "resourceType" : "Encounter",
        "id" : "mii-exa-seltene-encounter-nachsorge-001",
        "language" : "de",
        "text" : {
          "status" : "generated"
        },
        "status" : "finished",
        "class" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
          "code" : "AMB",
          "display" : "ambulatory"
        },
        "type" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "390906007",
                "display" : "Follow-up encounter"
              }
            ]
          }
        ],
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
        },
        "period" : {
          "start" : "2024-08-12",
          "end" : "2024-08-12"
        },
        "diagnosis" : [
          {
            "condition" : {
              🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
            }
          }
        ]
      },
      "request" : {
        "method" : "POST",
        "url" : "Encounter"
      }
    }
  ]
}