MII IG Modul Molekulargenetischer Befundbericht v2026

Familienanamnese Extensions

Übersicht

Diese Seite dokumentiert die spezifischen Extensions für die Familienanamnese im Kontext genetischer Analysen. Diese Extensions erweitern die FHIR FamilyMemberHistory Ressource um detaillierte Verwandtschaftsinformationen.

Extension: Verwandtschaftsgrad

Beschreibung: Gibt den Verwandtschaftsgrad zwischen Patient und Familienangehörigen an (z.B. erstgradig, zweitgradig).

URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad

Kontext: FamilyMemberHistory.relationship.coding

Kardinalität: 0..1

Profil

MII_EX_MolGen_Verwandtschaftsgrad (Extension)	C		Extension	Element id Extension Short description MII EX Mol Gen Verwandtschaftsgrad Definition Extension erlaubt die Angabe eines Verwandtschaftsgrades zwischen Patient und Familienangehörigen. 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	0..0	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
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-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad Mappings rim: N/A
value[x]		1..1	Binding	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). Binding MII_VS_MolGen_Verwandtschaftsgrad (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueCoding			Coding	Data type Coding

ValueSet: Verwandtschaftsgrad

This value set includes codes from the following code systems:

The following codes from system: SNOMED_CT
Code Display
125678001 First degree blood relative (person)
699110007 Second degree blood relative (person)

Code	Display
125678001	First degree blood relative (person)
699110007	Second degree blood relative (person)

Enthält Konzepte:

SCT#125678001 - First degree blood relative (person)
SCT#699110007 - Second degree blood relative (person)

Extension: Verwandtschaftsverhältnis

Beschreibung: Spezifiziert das genaue Verwandtschaftsverhältnis zwischen Patient und Familienangehörigen (z.B. natürliches Kind, adoptiert).

URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis

Kontext: FamilyMemberHistory.relationship.coding

Kardinalität: 0..1

Profil

MII_EX_MolGen_Verwandtschaftsverhaeltnis (Extension)	C		Extension	Element id Extension Short description MII EX MolGen Verwandtschaftsverhaeltnis Definition Extension erlaubt die Angabe eines Verwandtschaftsverhältnisses zwischen Patient und Familienangehörigen. 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	0..0	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
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-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis Mappings rim: N/A
value[x]		1..1	Binding	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). Binding MII_VS_MolGen_Verwandtsverhaeltnis (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueCoding			Coding	Data type Coding

ValueSet: Verwandtschaftsverhältnis

This value set includes codes from the following code systems:

The following codes from system: 699110007

Code	Display
75226009	Natural child (person)
13646006	Natural parent (person)
60614009	Natural brother (person)
73678001	Natural sister (person)
45929001	Half-brother (person)
2272004	Half-sister (person)
62296006	Natural grandfather (person)
17945006	Natural grandmother (person)

Beispiel-Konzepte:

SCT#75226009 - Natural child (person)
SCT#441869007 - Adopted child (person)

Extension: Familiäre Linie

Beschreibung: Gibt die familiäre Linie an (mütterlich oder väterlich), aus der die Verwandtschaft stammt.

URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie

Kontext: FamilyMemberHistory.relationship.coding

Kardinalität: 0..1

Profil

MII_EX_MolGen_FamiliareLinie (Extension)	C		Extension	Element id Extension Short description MII EX MolGen Familiare Linie Definition Extension erlaubt die Angabe der familiären Linie zwischen Patient und Familienangehörigen. 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	0..0	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
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-molgen/StructureDefinition/mii-ex-molgen-familiare-linie Mappings rim: N/A
value[x]		1..1	Binding	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). Binding MII_VS_MolGen_FamiliaereLinie (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueCoding			Coding	Data type Coding

ValueSet: Familiäre Linie

This value set includes codes from the following code systems:

The following codes from system: 17945006
Code Display
72705000 Mother (person)
66839005 Father (person)

Code	Display
72705000	Mother (person)
66839005	Father (person)

Enthält Konzepte:

SCT#72705000 - Mother (person)
SCT#66839005 - Father (person)

Verwendungsbeispiel

{
  "resourceType": "FamilyMemberHistory",
  "relationship": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "72705000",
        "display": "Mother",
        "extension": [
          {
            "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsgrad",
            "valueCoding": {
              "system": "http://snomed.info/sct",
              "code": "125678001",
              "display": "First degree blood relative"
            }
          },
          {
            "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-verwandtschaftsverhaeltnis",
            "valueCoding": {
              "system": "http://snomed.info/sct",
              "code": "75226009",
              "display": "Natural child"
            }
          },
          {
            "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-ex-molgen-familiare-linie",
            "valueCoding": {
              "system": "http://snomed.info/sct",
              "code": "72705000",
              "display": "Mother"
            }
          }
        ]
      }
    ]
  }
}

Hinweise zur Implementierung

Alle drei Extensions sind optional und können unabhängig voneinander verwendet werden
Die Extensions werden als Teil des relationship.coding Elements angehängt
Die ValueSets verwenden primär SNOMED CT Konzepte
Bei der Angabe der familiären Linie ist besonders bei genetischen Erbgängen die Unterscheidung zwischen mütterlicher und väterlicher Linie relevant