FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.seltene |
| Resource Type | Bundle |
| Id | Bundle-bundle-sma-complete.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "Bundle",
"id": "bundle-sma-complete",
"type": "transaction",
"timestamp": "2024-08-12T14:00:00+00:00",
"entry": [
{
"fullUrl": "urn:uuid:6830d99e-9bbe-48ed-8927-ff28eadc42e0",
"resource": {
"resourceType": "Patient",
"id": "patient-sma-001",
"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": "condition-sma-suspected",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2026.0.0"
]
},
"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/patient-sma-001"
},
"encounter": {
"reference": "Encounter/encounter-screening-001"
},
"recordedDate": "2024-07-18",
"evidence": [
{
"code": [
{
"text": "Positives Neugeborenenscreening"
}
],
"detail": [
{
"reference": "Observation/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": "condition-sma-clinical",
"meta": {
"profile": [
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]
},
"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/patient-sma-001"
},
"encounter": {
"reference": "Encounter/encounter-ambulant-001"
},
"onsetDateTime": "2024-07-01",
"recordedDate": "2024-07-22",
"evidence": [
{
"code": [
{
"text": "Klinische Präsentation"
}
],
"detail": [
{
"reference": "Observation/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": "condition-sma-genetic",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2026.0.0"
]
},
"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/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/variant-smn1-001"
},
{
"reference": "Observation/variant-smn2-001"
}
]
},
{
"code": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "405824009",
"display": "Genetic test"
}
]
}
],
"detail": [
{
"reference": "DiagnosticReport/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": "family-history-001",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-familienanamnese|2026.0.0"
]
},
"extension": [
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/von-seltene-betroffen",
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "261665006",
"display": "Unknown"
}
]
}
}
],
"status": "completed",
"patient": {
"reference": "Patient/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": "observation-sma-screening",
"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/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": "variant-smn1-001",
"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/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": "variant-smn2-001",
"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/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": "procedure-gentherapy-001",
"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/patient-sma-001"
},
"performedDateTime": "2024-07-29",
"reasonReference": [
{
"reference": "Condition/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": "observation-alt-001",
"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/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": "observation-ast-001",
"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/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": "observation-plt-001",
"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/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": "observation-troponin-001",
"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/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": "observation-troponin-002",
"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/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": "observation-troponin-003",
"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/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": "observation-troponin-004",
"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/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": "clinical-impression-erstvorstellung",
"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-sma-001"
},
"encounter": {
"reference": "Encounter/encounter-ambulant-001"
},
"effectiveDateTime": "2024-07-22",
"date": "2024-07-22",
"problem": [
{
"reference": "Condition/condition-sma-suspected"
}
],
"investigation": [
{
"code": {
"text": "Familienanamnese"
},
"item": [
{
"reference": "FamilyMemberHistory/family-history-001"
}
]
},
{
"code": {
"text": "Labordiagnostik"
},
"item": [
{
"reference": "Observation/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/condition-sma-clinical"
}
},
{
"itemReference": {
"reference": "Condition/condition-sma-genetic"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "1363512008",
"display": "Troponin above reference range"
}
]
},
"itemReference": {
"reference": "Observation/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": "clinical-impression-nachsorge",
"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-sma-001"
},
"encounter": {
"reference": "Encounter/encounter-nachsorge-001"
},
"effectiveDateTime": "2024-08-12",
"date": "2024-08-12",
"previous": {
"reference": "ClinicalImpression/clinical-impression-erstvorstellung"
},
"problem": [
{
"reference": "Condition/condition-sma-clinical"
},
{
"reference": "Condition/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/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": "encounter-screening-001",
"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/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": "encounter-ambulant-001",
"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/patient-sma-001"
},
"period": {
"start": "2024-07-22",
"end": "2024-07-22"
},
"diagnosis": [
{
"condition": {
"reference": "Condition/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": "encounter-stationaer-001",
"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/patient-sma-001"
},
"period": {
"start": "2024-07-29",
"end": "2024-07-30"
},
"diagnosis": [
{
"condition": {
"reference": "Condition/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": "encounter-nachsorge-001",
"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/patient-sma-001"
},
"period": {
"start": "2024-08-12",
"end": "2024-08-12"
},
"diagnosis": [
{
"condition": {
"reference": "Condition/condition-sma-genetic"
}
}
]
},
"request": {
"method": "POST",
"url": "Encounter"
}
}
]
}