{ "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" }