MII IG Modul Seltene Erkrankungen

Tod durch Seltene Erkrankung

Diese Extension dokumentiert, ob der Tod eines Patienten durch eine seltene Erkrankung verursacht wurde. Sie wird am Patient.deceased[x] Element verwendet und ermöglicht sowohl die Angabe, ob der Tod durch eine seltene Erkrankung bedingt war, als auch die Referenzierung der spezifischen Erkrankung.

Kontext und Verwendung

Die Extension wird ausschließlich im Kontext von Patient.deceased[x] verwendet, wenn ein Patient verstorben ist. Sie besteht aus zwei Sub-Extensions:

causedByRareDisease (verpflichtend): Ein boolescher Wert, der angibt, ob der Tod durch eine seltene Erkrankung verursacht wurde
condition (optional): Referenz auf die spezifische seltene Erkrankung (klinische oder genetische Diagnose)

Struktur

Name	Status	Version	Canonical	Basis
MII_EX_Seltene_TodDurchSelteneErkrankung	active	2026.0.0-ballot	https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung	http://hl7.org/fhir/StructureDefinition/Extension

Inhalt

MII_EX_Seltene_TodDurchSelteneErkrankung (Extension)	C		Extension	Element id Extension Short description Tod durch seltene Erkrankung Definition Gibt an, ob der Patient an einer seltenen Erkrankung verstorben ist Data type Extension Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a rim: N/A
id		0..1	string	There are no (further) constraints on this element Element id Extension.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	C	1..*	Extension	There are no (further) constraints on this element Element id Extension.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
causedByRareDisease	S C	1..1	Extension	Element id Extension.extension:causedByRareDisease Short description Tod durch seltene Erkrankung Alternate names extensions, user content Definition Boolescher Wert, der angibt, ob der Tod durch eine seltene Erkrankung verursacht wurde Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id Extension.extension:causedByRareDisease.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	C	0..0	Extension	There are no (further) constraints on this element Element id Extension.extension:causedByRareDisease.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
url		1..1	uriFixed Value	Element id Extension.extension:causedByRareDisease.url Short description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL. Comments The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension. Data type uri Fixed value causedByRareDisease Mappings rim: N/A
value[x]	S	1..1		There are no (further) constraints on this element Element id Extension.extension:causedByRareDisease.value[x] Short description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueBoolean			boolean	Data type boolean
condition	S C	0..*	Extension	Element id Extension.extension:condition Short description Verursachende seltene Erkrankung Alternate names extensions, user content Definition Referenz auf die seltene Erkrankung, die zum Tod geführt hat Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id Extension.extension:condition.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	C	0..0	Extension	There are no (further) constraints on this element Element id Extension.extension:condition.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
url		1..1	uriFixed Value	Element id Extension.extension:condition.url Short description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL. Comments The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension. Data type uri Fixed value condition Mappings rim: N/A
value[x]	S	1..1		There are no (further) constraints on this element Element id Extension.extension:condition.value[x] Short description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueReference			Reference(MII_PR_Seltene_ClinicalDiagnosis \| MII_PR_Seltene_GeneticDiagnosis \| Condition)	Data type Reference(MII_PR_Seltene_ClinicalDiagnosis \| MII_PR_Seltene_GeneticDiagnosis \| Condition)
url		1..1	uriFixed Value	Element id Extension.url Short description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL. Comments The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension. Data type uri Fixed value https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung Mappings rim: N/A
value[x]		0..0		There are no (further) constraints on this element Element id Extension.value[x] Short description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A

Extension zur Dokumentation, ob der Tod des Patienten durch eine seltene Erkrankung verursacht wurde

Feldname	Kurzbeschreibung
Extension.extension:causedByRareDisease	Tod durch seltene Erkrankung
Extension.extension:causedByRareDisease.value[x]
Extension.extension:condition	Verursachende seltene Erkrankung
Extension.extension:condition.value[x]

<id value="mii-ex-seltene-tod-durch-seltene-erkrankung" />
<url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung" />
<version value="2026.0.0-ballot" />
<name value="MII_EX_Seltene_TodDurchSelteneErkrankung" />
<title value="MII EX Seltene Erkrankungen Tod durch Seltene Erkrankung" />
<status value="active" />
<experimental value="false" />
<publisher value="Medizininformatik Initiative" />
<contact>
<telecom>
<system value="url" />
<value value="https://www.medizininformatik-initiative.de" />
</telecom>
</contact>
<description value="Extension zur Dokumentation, ob der Tod des Patienten durch eine seltene Erkrankung verursacht wurde" />
<fhirVersion value="4.0.1" />
<kind value="complex-type" />
<abstract value="false" />
<context>
<type value="element" />
<expression value="Patient.deceased[x]" />
</context>
<type value="Extension" />
<baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension" />
<derivation value="constraint" />
<differential>
<element id="Extension">
<path value="Extension" />
<short value="Tod durch seltene Erkrankung" />
<definition value="Gibt an, ob der Patient an einer seltenen Erkrankung verstorben ist" />
</element>
<element id="Extension.extension">
<path value="Extension.extension" />
<min value="1" />
</element>
<element id="Extension.extension:causedByRareDisease">
<path value="Extension.extension" />
<sliceName value="causedByRareDisease" />
<short value="Tod durch seltene Erkrankung" />
<definition value="Boolescher Wert, der angibt, ob der Tod durch eine seltene Erkrankung verursacht wurde" />
<min value="1" />
<max value="1" />
<mustSupport value="true" />
</element>
<element id="Extension.extension:causedByRareDisease.extension">
<path value="Extension.extension.extension" />
<max value="0" />
</element>
<element id="Extension.extension:causedByRareDisease.url">
<path value="Extension.extension.url" />
<fixedUri value="causedByRareDisease" />
</element>
<element id="Extension.extension:causedByRareDisease.value[x]">
<path value="Extension.extension.value[x]" />
<min value="1" />
<type>
<code value="boolean" />
</type>
<mustSupport value="true" />
</element>
<element id="Extension.extension:condition">
<path value="Extension.extension" />
<sliceName value="condition" />
<short value="Verursachende seltene Erkrankung" />
<definition value="Referenz auf die seltene Erkrankung, die zum Tod geführt hat" />
<min value="0" />
<max value="*" />
<mustSupport value="true" />
</element>
<element id="Extension.extension:condition.extension">
<path value="Extension.extension.extension" />
<max value="0" />
</element>
<element id="Extension.extension:condition.url">
<path value="Extension.extension.url" />
<fixedUri value="condition" />
</element>
<element id="Extension.extension:condition.value[x]">
<path value="Extension.extension.value[x]" />
<min value="1" />
<type>
<code value="Reference" />
<targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis" />
<targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis" />
<targetProfile value="http://hl7.org/fhir/StructureDefinition/Condition" />
</type>
<mustSupport value="true" />
</element>
<element id="Extension.url">
<path value="Extension.url" />
<fixedUri value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung" />
</element>
<element id="Extension.value[x]">
<path value="Extension.value[x]" />
<max value="0" />
</element>
</differential>

</StructureDefinition>

{

"resourceType": "StructureDefinition",
"id": "mii-ex-seltene-tod-durch-seltene-erkrankung",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung",
"version": "2026.0.0-ballot",
"name": "MII_EX_Seltene_TodDurchSelteneErkrankung",
"title": "MII EX Seltene Erkrankungen Tod durch Seltene Erkrankung",
"status": "active",
"experimental": false,
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Extension zur Dokumentation, ob der Tod des Patienten durch eine seltene Erkrankung verursacht wurde",
"fhirVersion": "4.0.1",
"kind": "complex-type",
"abstract": false,
"context": [
{
"expression": "Patient.deceased[x]",
"type": "element"
}
],
"type": "Extension",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
"derivation": "constraint",
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Tod durch seltene Erkrankung",
"definition": "Gibt an, ob der Patient an einer seltenen Erkrankung verstorben ist"
},
{
"id": "Extension.extension",
"path": "Extension.extension",
"min": 1
},
{
"id": "Extension.extension:causedByRareDisease",
"path": "Extension.extension",
"sliceName": "causedByRareDisease",
"short": "Tod durch seltene Erkrankung",
"definition": "Boolescher Wert, der angibt, ob der Tod durch eine seltene Erkrankung verursacht wurde",
"min": 1,
"max": "1",
"mustSupport": true
},
{
"id": "Extension.extension:causedByRareDisease.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:causedByRareDisease.url",
"path": "Extension.extension.url",
"fixedUri": "causedByRareDisease"
},
{
"id": "Extension.extension:causedByRareDisease.value[x]",
"path": "Extension.extension.value[x]",
"min": 1,
"type": [
{
"code": "boolean"
}
],
"mustSupport": true
},
{
"id": "Extension.extension:condition",
"path": "Extension.extension",
"sliceName": "condition",
"short": "Verursachende seltene Erkrankung",
"definition": "Referenz auf die seltene Erkrankung, die zum Tod geführt hat",
"min": 0,
"max": "*",
"mustSupport": true
},
{
"id": "Extension.extension:condition.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:condition.url",
"path": "Extension.extension.url",
"fixedUri": "condition"
},
{
"id": "Extension.extension:condition.value[x]",
"path": "Extension.extension.value[x]",
"min": 1,
"type": [
{
"code": "Reference",
"targetProfile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis",
"http://hl7.org/fhir/StructureDefinition/Condition"
]
}
],
"mustSupport": true
},
{
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"max": "0"
}
]
}

}

MII EX Seltene Erkrankungen Tod durch Seltene Erkrankung

Anwendungsbeispiel

Die Extension wird am deceasedDateTime oder deceasedBoolean Element eines Patient-Profils angehängt:

{
  "resourceType": "Patient",
  "id": "beispiel-patient-seltene-erkrankung-tod",
  "deceasedDateTime": "2024-06-15",
  "_deceasedDateTime": {
    "extension": [{
      "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-tod-durch-seltene-erkrankung",
      "extension": [
        {
          "url": "causedByRareDisease",
          "valueBoolean": true
        },
        {
          "url": "condition",
          "valueReference": {
            "reference": "Condition/marfan-syndrom-diagnose",
            "display": "Marfan-Syndrom mit Aortendissektion"
          }
        }
      ]
    }]
  }
}