{
"description": "Profile for symptom-based conditions in the context of rare diseases. This profile captures symptomatic conditions with temporal characteristics, complementing the HPO Assessment Observation profile.",
"_filename": "StructureDefinition-mii-pr-seltene-symptom-condition.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
"date": null,
"derivation": "constraint",
"publisher": "Medizininformatik Initiative",
"fhirVersion": "4.0.1",
"name": "MII_PR_Seltene_Symptom_Condition",
"mapping": [ {
"uri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/LogicalModel/Seltene",
"name": "Mapping FHIR zu Seltene Erkrankungen Logical Model",
"identity": "SE-LogicalModel"
} ],
"abstract": false,
"type": "Condition",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "MII Profile SE Symptom Condition",
"package_version": "2026.0.0-ballot",
"status": "draft",
"id": "12453a65-4aa4-4644-828d-f80415414cd1",
"kind": "resource",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-symptom-condition",
"version": "2026.0.0-ballot",
"differential": {
"element": [ {
"id": "Condition",
"path": "Condition",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung",
"comment": "Phänotypisierung als Condition",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.id",
"path": "Condition.id",
"mustSupport": true
}, {
"id": "Condition.meta",
"path": "Condition.meta",
"mustSupport": true
}, {
"id": "Condition.identifier",
"path": "Condition.identifier",
"mustSupport": true
}, {
"id": "Condition.clinicalStatus",
"path": "Condition.clinicalStatus",
"short": "Klinischer Status der Symptom-Erkrankung",
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/ValueSet/condition-clinical"
},
"mustSupport": true
}, {
"id": "Condition.verificationStatus",
"path": "Condition.verificationStatus",
"short": "Verifikationsstatus der Symptom-Erkrankung",
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/ValueSet/condition-ver-status"
},
"mustSupport": true
}, {
"id": "Condition.category",
"min": 1,
"path": "Condition.category",
"short": "Kategorie der Erkrankung - muss Symptom-Kategorie enthalten",
"definition": "Kategoriecodes, die die Erkrankung klassifizieren, mit besonderem Fokus auf symptombezogene Kategorien",
"mustSupport": true
}, {
"id": "Condition.severity",
"path": "Condition.severity",
"short": "Schweregrad der Symptom-Erkrankung",
"binding": {
"strength": "extensible",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-severity-values"
},
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.VerlaufSymptom",
"comment": "Schweregrad/Verlauf",
"identity": "SE-LogicalModel"
} ],
"definition": "Schweregradbewertung der Symptom-Erkrankung unter Verwendung von HPO-Schweregrad-Werten",
"mustSupport": true
}, {
"id": "Condition.code",
"min": 1,
"path": "Condition.code",
"short": "HPO-basierter Symptom-Erkrankungs-Code",
"binding": {
"strength": "extensible",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
},
"definition": "Code zur Identifikation der Symptom-Erkrankung, vorzugsweise unter Verwendung von Human Phenotype Ontology (HPO) Codes",
"mustSupport": true
}, {
"id": "Condition.code.coding",
"path": "Condition.code.coding",
"slicing": {
"rules": "open",
"ordered": false,
"description": "Slicing für verschiedene Codesysteme zur Symptom-Codierung",
"discriminator": [ {
"path": "$this",
"type": "pattern"
} ]
},
"mustSupport": true
}, {
"path": "Condition.code.coding",
"min": 0,
"definition": "Human Phenotype Ontology Code zur Beschreibung des phänotypischen Symptoms",
"short": "HPO Code für das Symptom",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
"comment": "HPO-Term des Symptoms",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true,
"sliceName": "hpoCoding",
"max": "1",
"id": "Condition.code.coding:hpoCoding",
"patternCoding": {
"system": "http://purl.obolibrary.org/obo/hp.owl"
}
}, {
"id": "Condition.code.coding:hpoCoding.system",
"min": 1,
"path": "Condition.code.coding.system"
}, {
"id": "Condition.code.coding:hpoCoding.code",
"min": 1,
"path": "Condition.code.coding.code"
}, {
"id": "Condition.code.coding:hpoCoding.display",
"path": "Condition.code.coding.display",
"mustSupport": true
}, {
"path": "Condition.code.coding",
"min": 0,
"definition": "SNOMED CT Code zur klinischen Beschreibung des Symptoms",
"short": "SNOMED CT Code für das Symptom",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung",
"comment": "SNOMED CT Symptom",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true,
"sliceName": "snomedCoding",
"max": "1",
"id": "Condition.code.coding:snomedCoding",
"patternCoding": {
"system": "http://snomed.info/sct"
}
}, {
"id": "Condition.code.coding:snomedCoding.system",
"min": 1,
"path": "Condition.code.coding.system"
}, {
"id": "Condition.code.coding:snomedCoding.code",
"min": 1,
"path": "Condition.code.coding.code"
}, {
"id": "Condition.code.coding:snomedCoding.display",
"path": "Condition.code.coding.display",
"mustSupport": true
}, {
"path": "Condition.code.coding",
"min": 0,
"definition": "ICD-10 German Modification Code für die Symptom-Klassifikation",
"short": "ICD-10-GM Code für das Symptom",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung",
"comment": "ICD-10-GM Symptom",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true,
"sliceName": "icd10GMCoding",
"max": "1",
"id": "Condition.code.coding:icd10GMCoding",
"patternCoding": {
"system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm"
}
}, {
"id": "Condition.code.coding:icd10GMCoding.system",
"min": 1,
"path": "Condition.code.coding.system"
}, {
"id": "Condition.code.coding:icd10GMCoding.code",
"min": 1,
"path": "Condition.code.coding.code"
}, {
"id": "Condition.code.coding:icd10GMCoding.display",
"path": "Condition.code.coding.display",
"mustSupport": true
}, {
"id": "Condition.bodySite",
"path": "Condition.bodySite",
"short": "Anatomische Lokalisation des Symptoms",
"definition": "Die anatomische Lokalisation, wo sich das Symptom manifestiert",
"mustSupport": true
}, {
"id": "Condition.subject",
"path": "Condition.subject",
"type": [ {
"code": "Reference",
"targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient" ]
} ],
"short": "Patient mit der Symptom-Erkrankung",
"mapping": [ {
"map": "Patient",
"comment": "Patient/Indexpatient",
"identity": "SE-LogicalModel"
} ],
"definition": "Referenz auf den Patienten, der diese Symptom-Erkrankung hat",
"mustSupport": true
}, {
"id": "Condition.encounter",
"path": "Condition.encounter",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Untersuchungsdatum",
"comment": "Untersuchungskontakt",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true
}, {
"id": "Condition.onset[x]",
"path": "Condition.onset[x]",
"short": "Beginn der Symptom-Erkrankung",
"slicing": {
"rules": "open",
"ordered": false,
"discriminator": [ {
"path": "$this",
"type": "type"
} ]
},
"definition": "Geschätztes oder tatsächliches Datum, Alter, Zeitraum oder zeitliche Beschreibung, wann die Symptom-Erkrankung begann",
"mustSupport": true
}, {
"id": "Condition.onset[x]:onsetDateTime",
"max": "1",
"min": 0,
"path": "Condition.onset[x]",
"type": [ {
"code": "dateTime"
} ],
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
"comment": "Startdatum des Symptoms",
"identity": "SE-LogicalModel"
} ],
"sliceName": "onsetDateTime"
}, {
"id": "Condition.onset[x]:onsetPeriod",
"max": "1",
"min": 0,
"path": "Condition.onset[x]",
"type": [ {
"code": "Period"
} ],
"sliceName": "onsetPeriod"
}, {
"id": "Condition.onset[x]:onsetPeriod.start",
"path": "Condition.onset[x].start",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
"comment": "Beginn Symptomzeitraum",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.onset[x]:onsetPeriod.end",
"path": "Condition.onset[x].end",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.ZeitraumSymptom",
"comment": "Ende Symptomzeitraum",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.onset[x]:onsetAge",
"max": "1",
"min": 0,
"path": "Condition.onset[x]",
"type": [ {
"code": "Age"
} ],
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.AlterSymptom",
"comment": "Alter bei Symptombeginn",
"identity": "SE-LogicalModel"
} ],
"sliceName": "onsetAge"
}, {
"id": "Condition.onset[x]:onsetString",
"max": "1",
"min": 0,
"path": "Condition.onset[x]",
"type": [ {
"code": "string"
} ],
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.ZeitraumSymptom.Lebensphase",
"comment": "Lebensphase Symptom",
"identity": "SE-LogicalModel"
} ],
"sliceName": "onsetString"
}, {
"id": "Condition.abatement[x]",
"path": "Condition.abatement[x]",
"short": "Auflösung der Symptom-Erkrankung",
"slicing": {
"rules": "open",
"ordered": false,
"discriminator": [ {
"path": "$this",
"type": "type"
} ]
},
"definition": "Datum, Alter, Zeitraum oder zeitliche Beschreibung, wann die Symptom-Erkrankung abgeklungen ist oder in Remission ging",
"mustSupport": true
}, {
"id": "Condition.abatement[x]:abatementDateTime",
"max": "1",
"min": 0,
"path": "Condition.abatement[x]",
"type": [ {
"code": "dateTime"
} ],
"mapping": [ {
"map": "Ende des Symptoms",
"comment": "Enddatum des Symptoms",
"identity": "SE-LogicalModel"
} ],
"sliceName": "abatementDateTime"
}, {
"id": "Condition.recordedDate",
"path": "Condition.recordedDate",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Untersuchungsdatum",
"comment": "Dokumentationsdatum",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true
}, {
"id": "Condition.stage",
"path": "Condition.stage",
"short": "Stadium oder Progression der Symptom-Erkrankung",
"mustSupport": true
}, {
"id": "Condition.stage.summary",
"path": "Condition.stage.summary",
"binding": {
"strength": "extensible",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-severity-values"
}
}, {
"id": "Condition.stage.assessment",
"path": "Condition.stage.assessment",
"type": [ {
"code": "Reference",
"targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Observation", "http://hl7.org/fhir/StructureDefinition/DiagnosticReport" ]
} ]
}, {
"id": "Condition.evidence",
"path": "Condition.evidence",
"short": "Unterstützende Evidenz für die Symptom-Erkrankung",
"mustSupport": true
}, {
"id": "Condition.evidence.code",
"path": "Condition.evidence.code",
"binding": {
"strength": "extensible",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
},
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
"comment": "Unterstützende HPO-Symptome",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.evidence.detail",
"path": "Condition.evidence.detail",
"type": [ {
"code": "Reference",
"targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Observation", "http://hl7.org/fhir/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/DiagnosticReport" ]
} ],
"short": "Unterstützende Beobachtungen oder Dokumente",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Phaenotypisierung",
"comment": "Verweis auf Beobachtungen",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.note",
"path": "Condition.note",
"short": "Zusätzliche Anmerkungen zur Symptom-Erkrankung",
"definition": "Zusätzliche Beschreibung der Symptom-Erkrankung, die in anderen Feldern nicht erfasst ist",
"mustSupport": true
} ]
},
"contact": [ {
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de",
"system": "url"
} ]
} ],
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Condition"
}