{
"description": "Dieses Profil beschreibt die Familienanamnese eines Patienten im Kontext von seltenen Erkrankungen, basierend auf dem MolGen Familienanamnese Profil.",
"_filename": "StructureDefinition-mii-pr-seltene-familienanamnese.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
"date": null,
"derivation": "constraint",
"publisher": "Medizininformatik Initiative",
"fhirVersion": "4.0.1",
"name": "MII_PR_Seltene_Familienanamnese",
"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": "FamilyMemberHistory",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "MII PR SE Familienanamnese",
"package_version": "2026.0.0-ballot",
"status": "draft",
"id": "c451b9b9-f728-4855-83e2-f19ebf342936",
"kind": "resource",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-familienanamnese",
"version": "2026.0.0-ballot",
"differential": {
"element": [ {
"id": "FamilyMemberHistory",
"path": "FamilyMemberHistory",
"mapping": [ {
"map": "Familienanamnese",
"comment": "Familienanamnese",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "FamilyMemberHistory.extension",
"min": 1,
"path": "FamilyMemberHistory.extension"
}, {
"path": "FamilyMemberHistory.extension",
"min": 1,
"definition": "Extension zur Angabe, ob ein Familienmitglied von der gleichen seltenen Erkrankung betroffen ist wie der Patient",
"short": "Gibt an, ob das Familienmitglied von der gleichen seltenen Erkrankung betroffen ist",
"mapping": [ {
"map": "Familienanamnese.GleicheSE",
"comment": "Gleiche SE",
"identity": "SE-LogicalModel"
} ],
"type": [ {
"code": "Extension",
"profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/von-seltene-betroffen" ]
} ],
"mustSupport": true,
"sliceName": "vonSEBetroffen",
"max": "1",
"id": "FamilyMemberHistory.extension:vonSEBetroffen"
}, {
"id": "FamilyMemberHistory.patient",
"path": "FamilyMemberHistory.patient",
"mapping": [ {
"map": "Patient",
"comment": "Patient/Indexpatient",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "FamilyMemberHistory.date",
"path": "FamilyMemberHistory.date",
"mapping": [ {
"map": "Dokumentationsdatum",
"comment": "Datum der Familienanamnese",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "FamilyMemberHistory.relationship",
"path": "FamilyMemberHistory.relationship",
"mapping": [ {
"map": "Familienanamnese.Verwandtschaftsverhaeltnis",
"comment": "Verwandtschaftsverhältnis",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "FamilyMemberHistory.sex",
"path": "FamilyMemberHistory.sex",
"mapping": [ {
"map": "Familienanamnese.Geschlecht",
"comment": "Geschlecht",
"identity": "SE-LogicalModel"
} ]
}, {
"id": "FamilyMemberHistory.born[x]",
"path": "FamilyMemberHistory.born[x]",
"mustSupport": true
}, {
"id": "FamilyMemberHistory.age[x]",
"path": "FamilyMemberHistory.age[x]",
"mustSupport": true
}, {
"id": "FamilyMemberHistory.deceased[x]",
"path": "FamilyMemberHistory.deceased[x]",
"slicing": {
"rules": "open",
"ordered": false,
"discriminator": [ {
"path": "$this",
"type": "type"
} ]
},
"mustSupport": true
}, {
"id": "FamilyMemberHistory.deceased[x]:deceasedBoolean",
"max": "1",
"min": 0,
"path": "FamilyMemberHistory.deceased[x]",
"type": [ {
"code": "boolean"
} ],
"mapping": [ {
"map": "Familienanamnese.FamilienmitgliedVerstorben",
"comment": "Familienmitglied verstorben",
"identity": "SE-LogicalModel"
} ],
"sliceName": "deceasedBoolean"
}, {
"id": "FamilyMemberHistory.deceased[x]:deceasedDate",
"max": "1",
"min": 0,
"path": "FamilyMemberHistory.deceased[x]",
"type": [ {
"code": "date"
} ],
"mapping": [ {
"map": "Familienanamnese.FamilienmitgliedVerstorben",
"comment": "Sterbedatum",
"identity": "SE-LogicalModel"
} ],
"sliceName": "deceasedDate"
}, {
"id": "FamilyMemberHistory.deceased[x]:deceasedAge",
"max": "1",
"min": 0,
"path": "FamilyMemberHistory.deceased[x]",
"type": [ {
"code": "Age"
} ],
"mapping": [ {
"map": "Familienanamnese.FamilienmitgliedVerstorben",
"comment": "Alter bei Tod",
"identity": "SE-LogicalModel"
} ],
"sliceName": "deceasedAge"
}, {
"id": "FamilyMemberHistory.reasonCode",
"path": "FamilyMemberHistory.reasonCode",
"mapping": [ {
"map": "Familienanamnese.AndereSE",
"comment": "Grund/Erkrankung des Familienmitglieds",
"identity": "SE-LogicalModel"
} ]
}, {
"path": "FamilyMemberHistory.condition.extension",
"min": 0,
"definition": "Angabe zur Penetranz der genetischen Variante bei der Erkrankung des Familienmitglieds",
"short": "Penetranz der genetischen Variante beim Familienmitglied",
"mapping": [ {
"map": "Familienanamnese.Penetranz",
"comment": "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": "FamilyMemberHistory.condition.extension:penetrance"
}, {
"id": "FamilyMemberHistory.condition.code.coding:icd10-gm",
"path": "FamilyMemberHistory.condition.code.coding",
"mapping": [ {
"map": "Familienanamnese.AndereSE",
"comment": "Andere SE (ICD-10-GM)",
"identity": "SE-LogicalModel"
} ],
"sliceName": "icd10-gm"
}, {
"id": "FamilyMemberHistory.condition.code.coding:sct",
"path": "FamilyMemberHistory.condition.code.coding",
"mapping": [ {
"map": "Familienanamnese.AndereSE",
"comment": "Andere SE (SNOMED CT)",
"identity": "SE-LogicalModel"
} ],
"sliceName": "sct"
}, {
"id": "FamilyMemberHistory.condition.code.coding:orphanet",
"path": "FamilyMemberHistory.condition.code.coding",
"mapping": [ {
"map": "Familienanamnese.AndereSE",
"comment": "Andere SE (Orpha-Code)",
"identity": "SE-LogicalModel"
} ],
"sliceName": "orphanet"
}, {
"id": "FamilyMemberHistory.condition.onset[x]",
"path": "FamilyMemberHistory.condition.onset[x]",
"slicing": {
"rules": "open",
"ordered": false,
"discriminator": [ {
"path": "$this",
"type": "type"
} ]
},
"mustSupport": true
}, {
"id": "FamilyMemberHistory.condition.onset[x]:onsetAge",
"max": "1",
"min": 0,
"path": "FamilyMemberHistory.condition.onset[x]",
"type": [ {
"code": "Age"
} ],
"mapping": [ {
"map": "Alter bei Erkrankungsbeginn",
"comment": "Alter bei Erkrankung",
"identity": "SE-LogicalModel"
} ],
"sliceName": "onsetAge"
} ]
},
"contact": [ {
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de",
"system": "url"
} ]
} ],
"baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/familienanamnese"
}