{
"description": "Profile for genetically confirmed diagnosis of rare diseases with OMIM codes and links to MolGen variant/diagnostic implication resources. This profile is used when a rare disease diagnosis has been confirmed through genetic testing.",
"_filename": "StructureDefinition-mii-pr-seltene-genetic-diagnosis.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
"date": null,
"derivation": "constraint",
"publisher": "Medizininformatik Initiative",
"fhirVersion": "4.0.1",
"name": "MII_PR_Seltene_GeneticDiagnosis",
"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 PR SE Genetic Diagnosis",
"package_version": "2026.0.0-ballot",
"extension": [ {
"url": "https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable",
"valueCodeableConcept": {
"coding": [ {
"code": "CC-BY-4.0",
"system": "http://hl7.org/fhir/spdx-license",
"display": "Creative Commons Attribution 4.0 International"
} ]
}
} ],
"status": "draft",
"id": "6cc6703f-e63b-489f-8460-03f6c9b36f31",
"kind": "resource",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis",
"version": "2026.0.0-ballot",
"differential": {
"element": [ {
"id": "Condition",
"path": "Condition",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "Genetische Diagnose",
"identity": "SE-LogicalModel"
} ],
"constraint": [ {
"key": "se-genetic-evidence",
"human": "Genetic diagnosis must have at least one evidence.detail referencing a MolGen resource",
"source": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis",
"severity": "error",
"expression": "evidence.exists() and evidence.detail.exists()"
} ]
}, {
"id": "Condition.extension:Feststellungsdatum",
"path": "Condition.extension",
"sliceName": "Feststellungsdatum"
}, {
"id": "Condition.extension:Feststellungsdatum.value[x]",
"path": "Condition.extension.value[x]",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose.FeststellungsdatumGenDia",
"comment": "Feststellungsdatum genetische SE-Diagnose",
"identity": "SE-LogicalModel"
} ]
}, {
"path": "Condition.extension",
"min": 0,
"definition": "Angabe zur Penetranz der genetischen Variante bei dieser Erkrankung",
"short": "Penetranz der genetischen Variante",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenDiaFehlendePenetranz",
"comment": "Genetische Diagnose mit fehlender Penetranz",
"identity": "SE-LogicalModel"
} ],
"type": [ {
"code": "Extension",
"profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" ]
} ],
"mustSupport": true,
"sliceName": "penetrance",
"max": "1",
"id": "Condition.extension:penetrance"
}, {
"id": "Condition.verificationStatus",
"path": "Condition.verificationStatus",
"comment": "For genetically confirmed diagnoses, verificationStatus should typically be 'confirmed'"
}, {
"id": "Condition.category",
"min": 1,
"path": "Condition.category",
"short": "Kategorisierung als genetische Erkrankung",
"definition": "Pflicht-Kategorie zur Kennzeichnung als genetisch bestÃĪtigte Erkrankung",
"mustSupport": true,
"patternCodeableConcept": {
"coding": [ {
"code": "782964007",
"system": "http://snomed.info/sct",
"display": "Genetic disease"
} ]
}
}, {
"id": "Condition.severity",
"path": "Condition.severity",
"mustSupport": true
}, {
"id": "Condition.code.coding:icd10-gm",
"path": "Condition.code.coding",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "ICD-10-GM Diagnose",
"identity": "SE-LogicalModel"
} ],
"sliceName": "icd10-gm"
}, {
"id": "Condition.code.coding:orphanet",
"path": "Condition.code.coding",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "Orpha-Code Diagnose",
"identity": "SE-LogicalModel"
} ],
"sliceName": "orphanet"
}, {
"path": "Condition.code.coding",
"min": 0,
"definition": "Online Mendelian Inheritance in Man (OMIM) code for the genetic disease",
"short": "OMIM disease code",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "OMIM-Code Diagnose",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true,
"sliceName": "omim",
"max": "*",
"id": "Condition.code.coding:omim",
"patternCoding": {
"system": "http://omim.org"
}
}, {
"id": "Condition.code.coding:omim.system",
"min": 1,
"path": "Condition.code.coding.system",
"mustSupport": true
}, {
"id": "Condition.code.coding:omim.code",
"min": 1,
"path": "Condition.code.coding.code",
"mustSupport": true
}, {
"id": "Condition.code.coding:omim.display",
"path": "Condition.code.coding.display",
"mustSupport": true
}, {
"id": "Condition.subject",
"path": "Condition.subject",
"mapping": [ {
"map": "Patient",
"comment": "Patient/Indexpatient",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.encounter",
"path": "Condition.encounter",
"mapping": [ {
"map": "AnamneseUndDiagnostik.Untersuchungsdatum",
"comment": "Untersuchungsdatum",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.onset[x]",
"path": "Condition.onset[x]",
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose.AlterGenDia",
"comment": "Alter/Zeitpunkt bei genetischer SE-Diagnose",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "Condition.onset[x]:onsetDateTime",
"path": "Condition.onset[x]",
"type": [ {
"code": "dateTime"
} ],
"mapping": [ {
"map": "AnamneseUndDiagnostik.GenetischeDiagnose.FeststellungsdatumGenDia",
"comment": "Feststellungsdatum genetische SE-Diagnose",
"identity": "SE-LogicalModel"
} ],
"sliceName": "onsetDateTime"
}, {
"id": "Condition.abatement[x]",
"path": "Condition.abatement[x]",
"mustSupport": true
}, {
"id": "Condition.recorder",
"path": "Condition.recorder",
"mustSupport": true
}, {
"id": "Condition.asserter",
"path": "Condition.asserter",
"mustSupport": true
}, {
"id": "Condition.stage",
"path": "Condition.stage",
"mustSupport": true
}, {
"id": "Condition.evidence",
"min": 1,
"path": "Condition.evidence",
"short": "Genetic evidence supporting the diagnosis",
"mustSupport": true
}, {
"id": "Condition.evidence.code",
"path": "Condition.evidence.code",
"short": "Type of genetic evidence",
"mapping": [ {
"map": "AnamneseUndDiagnostik.MethodeDiagnosestellung",
"comment": "Methode der Diagnosestellung",
"identity": "SE-LogicalModel"
} ],
"mustSupport": true
}, {
"id": "Condition.evidence.code.coding",
"path": "Condition.evidence.code.coding",
"slicing": {
"rules": "open",
"discriminator": [ {
"path": "$this",
"type": "pattern"
} ]
}
}, {
"id": "Condition.evidence.code.coding:geneticEvidence",
"max": "1",
"min": 0,
"path": "Condition.evidence.code.coding",
"short": "Indicates genetic evidence",
"sliceName": "geneticEvidence",
"mustSupport": true,
"patternCoding": {
"code": "106221001",
"system": "http://snomed.info/sct",
"display": "Genetic finding"
}
}, {
"path": "Condition.evidence.detail",
"min": 1,
"definition": "Must reference either MII PR MolGen Variante or MII PR MolGen DiagnostischeImplikation resources that contain the genetic findings supporting this diagnosis",
"short": "Reference to MolGen Variant or Diagnostic Implication",
"mapping": [ {
"map": "Verweis auf MolGen Variante/DiagnostischeImplikation",
"comment": "Genetische Befunde",
"identity": "SE-LogicalModel"
} ],
"type": [ {
"code": "Reference",
"targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Observation", "http://hl7.org/fhir/StructureDefinition/DiagnosticReport" ]
} ],
"mustSupport": true,
"id": "Condition.evidence.detail",
"comment": "Should reference: 1) MII PR MolGen Variante (Observation) for specific variant findings, or 2) MII PR MolGen DiagnostischeImplikation (DiagnosticReport) for comprehensive genetic diagnostic reports"
} ]
},
"contact": [ {
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de",
"system": "url"
} ]
} ],
"baseDefinition": "https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose"
}