MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Ressourcenprofil: MII PR MolGen Polygener Risiko Score

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score Version: 2027.0.0-ballot.1
Active Stand: 2026-09-13 Maschinenlesbarer Name: MII_PR_MolGen_PolygenerRisikoScore

Profil für Polygenen Risiko Score

Beschreibung

Ein polygener Risiko Score (PRS), manchmal auch als polygener Score (PGS) oder genetischer Risikoscore (GRS) bezeichnet, ist eine Schätzung des genetischen Risikos einer Person für ein bestimmtes Merkmal, die durch Aggregation und Quantifizierung der Auswirkungen vieler häufig vorkommender Varianten (in der Regel definiert als Minor-Allel-Häufigkeit ≥1%) im Genom gewonnen wird.

Profil

Extension

Einflussfaktor

  • Name: Einflussfaktor
  • Definition: Die Extension erweitert RiskAssessment.prediction um die Möglichkeit, weitere ausschlaggebende Faktoren mit Einfluss auf die Risikoberechnung anzugeben.
  • url: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor

Snapshot

Examples

Beispiele

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Usages:

You can also check for usages in the FHIR IG Statistics

Formale Ansichten des Profilinhalts

Beschreibung von Profilen, Differentials, Snapshots und deren Repräsentationen.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 0..* Identifier Identifikator
... code SΣ 0..1 CodeableConcept Code
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... occurrence[x] SΣ 0..1 Zeitpunkt
.... occurrenceDateTime dateTime
.... occurrencePeriod Period
... condition SΣ 0..1 Reference(Condition) Erkrankung
... basis S 0..* Reference(Resource) Grundlage
... prediction SC 0..* BackboneElement Vorhersage
Constraints: ras-2
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... outcome S 0..1 CodeableConcept Ergebnis
Binding Description: (example): The condition or other outcome; e.g. death, remission, amputation, infection, etc.
.... probability[x] SC 0..1 Wahrscheinlichkeit
Constraints: ras-1
..... probabilityDecimal decimal
..... probabilityRange Range
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
Binding: RiskProbability (example): The likelihood of the occurrence of a specified outcome.
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Zeitrahmen
..... whenPeriod Period
..... whenRange Range

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
RiskAssessment.status Base required ObservationStatus 📍4.0.1 FHIR Std.
RiskAssessment.prediction.​outcome Base example Not State Unknown
RiskAssessment.prediction.​qualitativeRisk Base example Risk Probability 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error RiskAssessment If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error RiskAssessment If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice RiskAssessment A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
ras-1 error RiskAssessment.prediction.probability[x] low and high must be percentages, if present (low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))
ras-2 error RiskAssessment.prediction Must be <= 100 probability is decimal implies (probability as decimal) <= 100

Diese Struktur ist abgeleitet von RiskAssessment

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... identifier S 0..* Identifier Identifikator
... status S 1..1 code Status
... code S 0..1 CodeableConcept Code
... encounter S 0..1 Reference(Encounter) Kontakt
... occurrence[x] S 0..1 dateTime, Period Zeitpunkt
... condition S 0..1 Reference(Condition) Erkrankung
... basis S 0..* Reference(Resource) Grundlage
... prediction S 0..* BackboneElement Vorhersage
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... outcome S 0..1 CodeableConcept Ergebnis
.... probability[x] S 0..1 decimal, Range Wahrscheinlichkeit
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Period, Range Zeitrahmen

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 0..* Identifier Identifikator
... basedOn 0..1 Reference(Resource) Request fulfilled by this assessment
... parent 0..1 Reference(Resource) Part of this occurrence
... status SΣ 1..1 code Status
Binding: ObservationStatus (required): The status of the risk assessment; e.g. preliminary, final, amended, etc.
... method Σ 0..1 CodeableConcept Evaluation mechanism
Binding Description: (example): The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc.
... code SΣ 0..1 CodeableConcept Code
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... occurrence[x] SΣ 0..1 Zeitpunkt
.... occurrenceDateTime dateTime
.... occurrencePeriod Period
... condition SΣ 0..1 Reference(Condition) Erkrankung
... performer Σ 0..1 Reference(Practitioner | PractitionerRole | Device) Who did assessment?
... reasonCode 0..* CodeableConcept Why the assessment was necessary?
... reasonReference 0..* Reference(Condition | Observation | DiagnosticReport | DocumentReference) Why the assessment was necessary?
... basis S 0..* Reference(Resource) Grundlage
... prediction SC 0..* BackboneElement Vorhersage
Constraints: ras-2
.... id 0..1 string Unique id for inter-element referencing
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... outcome S 0..1 CodeableConcept Ergebnis
Binding Description: (example): The condition or other outcome; e.g. death, remission, amputation, infection, etc.
.... probability[x] SC 0..1 Wahrscheinlichkeit
Constraints: ras-1
..... probabilityDecimal decimal
..... probabilityRange Range
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
Binding: RiskProbability (example): The likelihood of the occurrence of a specified outcome.
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Zeitrahmen
..... whenPeriod Period
..... whenRange Range
.... rationale 0..1 string Explanation of prediction
... mitigation 0..1 string How to reduce risk
... note 0..* Annotation Comments on the risk assessment

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
RiskAssessment.language Base preferred Common Languages 📍4.0.1 FHIR Std.
RiskAssessment.status Base required ObservationStatus 📍4.0.1 FHIR Std.
RiskAssessment.method Base example Not State Unknown
RiskAssessment.prediction.​outcome Base example Not State Unknown
RiskAssessment.prediction.​qualitativeRisk Base example Risk Probability 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error RiskAssessment If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error RiskAssessment If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice RiskAssessment A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
ras-1 error RiskAssessment.prediction.probability[x] low and high must be percentages, if present (low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))
ras-2 error RiskAssessment.prediction Must be <= 100 probability is decimal implies (probability as decimal) <= 100

Diese Struktur ist abgeleitet von RiskAssessment

Summary

Must-Support: 15 elements

Extensions

This structure refers to these extensions:

Schlüsselelemente-Ansicht

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 0..* Identifier Identifikator
... code SΣ 0..1 CodeableConcept Code
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... occurrence[x] SΣ 0..1 Zeitpunkt
.... occurrenceDateTime dateTime
.... occurrencePeriod Period
... condition SΣ 0..1 Reference(Condition) Erkrankung
... basis S 0..* Reference(Resource) Grundlage
... prediction SC 0..* BackboneElement Vorhersage
Constraints: ras-2
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... outcome S 0..1 CodeableConcept Ergebnis
Binding Description: (example): The condition or other outcome; e.g. death, remission, amputation, infection, etc.
.... probability[x] SC 0..1 Wahrscheinlichkeit
Constraints: ras-1
..... probabilityDecimal decimal
..... probabilityRange Range
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
Binding: RiskProbability (example): The likelihood of the occurrence of a specified outcome.
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Zeitrahmen
..... whenPeriod Period
..... whenRange Range

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
RiskAssessment.status Base required ObservationStatus 📍4.0.1 FHIR Std.
RiskAssessment.prediction.​outcome Base example Not State Unknown
RiskAssessment.prediction.​qualitativeRisk Base example Risk Probability 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error RiskAssessment If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error RiskAssessment If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice RiskAssessment A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
ras-1 error RiskAssessment.prediction.probability[x] low and high must be percentages, if present (low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))
ras-2 error RiskAssessment.prediction Must be <= 100 probability is decimal implies (probability as decimal) <= 100

Differential-Ansicht

Diese Struktur ist abgeleitet von RiskAssessment

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... identifier S 0..* Identifier Identifikator
... status S 1..1 code Status
... code S 0..1 CodeableConcept Code
... encounter S 0..1 Reference(Encounter) Kontakt
... occurrence[x] S 0..1 dateTime, Period Zeitpunkt
... condition S 0..1 Reference(Condition) Erkrankung
... basis S 0..* Reference(Resource) Grundlage
... prediction S 0..* BackboneElement Vorhersage
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... outcome S 0..1 CodeableConcept Ergebnis
.... probability[x] S 0..1 decimal, Range Wahrscheinlichkeit
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Period, Range Zeitrahmen

doco Documentation for this format

Snapshot-AnsichtView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. RiskAssessment 0..* RiskAssessment Potential outcomes for a subject with likelihood
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 0..* Identifier Identifikator
... basedOn 0..1 Reference(Resource) Request fulfilled by this assessment
... parent 0..1 Reference(Resource) Part of this occurrence
... status SΣ 1..1 code Status
Binding: ObservationStatus (required): The status of the risk assessment; e.g. preliminary, final, amended, etc.
... method Σ 0..1 CodeableConcept Evaluation mechanism
Binding Description: (example): The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc.
... code SΣ 0..1 CodeableConcept Code
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... occurrence[x] SΣ 0..1 Zeitpunkt
.... occurrenceDateTime dateTime
.... occurrencePeriod Period
... condition SΣ 0..1 Reference(Condition) Erkrankung
... performer Σ 0..1 Reference(Practitioner | PractitionerRole | Device) Who did assessment?
... reasonCode 0..* CodeableConcept Why the assessment was necessary?
... reasonReference 0..* Reference(Condition | Observation | DiagnosticReport | DocumentReference) Why the assessment was necessary?
... basis S 0..* Reference(Resource) Grundlage
... prediction SC 0..* BackboneElement Vorhersage
Constraints: ras-2
.... id 0..1 string Unique id for inter-element referencing
.... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
..... extension:whenCodeableConcept S 0..1 CodeableConcept Einflussfaktor
URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... outcome S 0..1 CodeableConcept Ergebnis
Binding Description: (example): The condition or other outcome; e.g. death, remission, amputation, infection, etc.
.... probability[x] SC 0..1 Wahrscheinlichkeit
Constraints: ras-1
..... probabilityDecimal decimal
..... probabilityRange Range
.... qualitativeRisk S 0..1 CodeableConcept Qualitatives Risiko
Binding: RiskProbability (example): The likelihood of the occurrence of a specified outcome.
.... relativeRisk S 0..1 decimal Relatives Risiko
.... when[x] S 0..1 Zeitrahmen
..... whenPeriod Period
..... whenRange Range
.... rationale 0..1 string Explanation of prediction
... mitigation 0..1 string How to reduce risk
... note 0..* Annotation Comments on the risk assessment

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
RiskAssessment.language Base preferred Common Languages 📍4.0.1 FHIR Std.
RiskAssessment.status Base required ObservationStatus 📍4.0.1 FHIR Std.
RiskAssessment.method Base example Not State Unknown
RiskAssessment.prediction.​outcome Base example Not State Unknown
RiskAssessment.prediction.​qualitativeRisk Base example Risk Probability 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error RiskAssessment If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error RiskAssessment If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error RiskAssessment If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice RiskAssessment A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
ras-1 error RiskAssessment.prediction.probability[x] low and high must be percentages, if present (low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))
ras-2 error RiskAssessment.prediction Must be <= 100 probability is decimal implies (probability as decimal) <= 100

Diese Struktur ist abgeleitet von RiskAssessment

Summary

Must-Support: 15 elements

Extensions

This structure refers to these extensions:

 

Weitere Repräsentationen des Profils: CSV, Excel, Schematron