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
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{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0007373",
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],
"text" : "Verdacht auf Spinale Muskelatrophie"
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"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
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"encounter" : {
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"recordedDate" : "2024-07-18",
"evidence" : [
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"code" : [
{
"text" : "Positives Neugeborenenscreening"
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"detail" : [
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🔗 "reference" : "Observation/mii-exa-seltene-observation-sma-screening"
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"note" : [
{
"text" : "Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar"
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"onsetDateTime" : "2024-07-01",
"recordedDate" : "2024-07-22",
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"text" : "Klinische Präsentation"
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🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
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"note" : [
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"text" : "Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin"
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"code" : {
"coding" : [
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"system" : "http://omim.org",
"version" : "2024",
"code" : "253300",
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"display" : "Werdnig-Hoffmann disease"
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"code" : "83330",
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"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
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"onsetDateTime" : "2024-07-01",
"recordedDate" : "2024-07-26",
"evidence" : [
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"detail" : [
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🔗 "reference" : "Observation/mii-exa-seltene-variant-smn1-001"
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{
🔗 "reference" : "Observation/mii-exa-seltene-variant-smn2-001"
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🔗 "reference" : "DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma"
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"note" : [
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"text" : "0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."
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"text" : "Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen."
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],
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},
"valueCodeableConcept" : {
"text" : "Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen"
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"valueQuantity" : {
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],
"note" : [
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"text" : "Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA"
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"component" : [
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"code" : "62374-4",
"display" : "Human reference sequence assembly version"
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"valueCodeableConcept" : {
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},
{
"code" : {
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"valueCodeableConcept" : {
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"effectiveDateTime" : "2024-07-26",
"note" : [
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"text" : "2 Kopien des SMN2-Gens, Modifikator des Phänotyps"
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"id" : "mii-exa-seltene-procedure-gentherapy-001",
"language" : "de",
"text" : {
"status" : "generated"
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"status" : "completed",
"category" : {
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"code" : {
"coding" : [
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"system" : "http://fdasis.nlm.nih.gov",
"code" : "MLU3LU3EVV",
"display" : "ONASEMNOGENE ABEPARVOVEC"
},
{
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"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" : {
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"code" : {
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"display" : "Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma"
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"display" : "Normal"
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],
"code" : {
"coding" : [
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"code" : "777-3",
"display" : "Platelets [#/volume] in Blood by Automated count"
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]
},
"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"
}
}
]
}