{ "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" }