MII-Initiative

MII IG Modul Molekulargenetischer Befundbericht v2026

Polygener Risiko Score RiskAssessment


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.

NameStatusVersionCanonicalBasis
MII_PR_MolGen_PolygenerRisikoScoreactive2026.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-scorehttp://hl7.org/fhir/StructureDefinition/RiskAssessment

Profil

idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
extensionC0..*Extension
modifierExtension?! C0..*Extension
identifierS Σ0..*Identifier
basedOn0..1Reference(Resource)
parent0..1Reference(Resource)
statusS Σ1..1codeBinding
methodΣ0..1CodeableConcept
codeS Σ0..1CodeableConcept
subjectS Σ1..1Reference(Patient | Group)
encounterS Σ0..1Reference(Encounter)
occurrenceDateTimedateTime
occurrencePeriodPeriod
conditionS Σ0..1Reference(Condition)
performerΣ0..1Reference(Practitioner | PractitionerRole | Device)
reasonCode0..*CodeableConcept
reasonReference0..*Reference(Condition | Observation | DiagnosticReport | DocumentReference)
basisS0..*Reference(Resource)
id0..1string
whenCodeableConceptS C0..1Extension(CodeableConcept)
modifierExtensionΣ ?! C0..*Extension
outcomeS0..1CodeableConcept
probabilityDecimaldecimal
probabilityRangeRange
qualitativeRiskS0..1CodeableConcept
relativeRiskS0..1decimal
whenPeriodPeriod
whenRangeRange
rationale0..1string
mitigation0..1string
note0..*Annotation

Profil für Polygenen Risiko Score

Feldname
RiskAssessment.identifier
RiskAssessment.status
RiskAssessment.code
RiskAssessment.subject
RiskAssessment.encounter
RiskAssessment.occurrence[x]
RiskAssessment.condition
RiskAssessment.basis
RiskAssessment.prediction
RiskAssessment.prediction.extension:whenCodeableConcept
RiskAssessment.prediction.outcome
RiskAssessment.prediction.probability[x]
RiskAssessment.prediction.qualitativeRisk
RiskAssessment.prediction.relativeRisk
RiskAssessment.prediction.when[x]
<StructureDefinition xmlns="http://hl7.org/fhir">
<id value="mii-pr-molgen-polygener-risiko-score" />
<url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score" />
<version value="2026.0.0-ballot" />
<name value="MII_PR_MolGen_PolygenerRisikoScore" />
<title value="MII PR MolGen Polygener Risiko Score" />
<status value="active" />
<publisher value="Medizininformatik Initiative" />
<system value="url" />
<value value="https://www.medizininformatik-initiative.de" />
</telecom>
</contact>
<description value="Profil für Polygenen Risiko Score" />
<fhirVersion value="4.0.1" />
<kind value="resource" />
<abstract value="false" />
<type value="RiskAssessment" />
<baseDefinition value="http://hl7.org/fhir/StructureDefinition/RiskAssessment" />
<derivation value="constraint" />
<element id="RiskAssessment.identifier">
<path value="RiskAssessment.identifier" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.status">
<path value="RiskAssessment.status" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.code">
<path value="RiskAssessment.code" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.subject">
<path value="RiskAssessment.subject" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.encounter">
<path value="RiskAssessment.encounter" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.occurrence[x]">
<path value="RiskAssessment.occurrence[x]" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.condition">
<path value="RiskAssessment.condition" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.basis">
<path value="RiskAssessment.basis" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction">
<path value="RiskAssessment.prediction" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.extension:whenCodeableConcept">
<path value="RiskAssessment.prediction.extension" />
<sliceName value="whenCodeableConcept" />
<min value="0" />
<max value="1" />
<code value="Extension" />
<profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor" />
</type>
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.outcome">
<path value="RiskAssessment.prediction.outcome" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.probability[x]">
<path value="RiskAssessment.prediction.probability[x]" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.qualitativeRisk">
<path value="RiskAssessment.prediction.qualitativeRisk" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.relativeRisk">
<path value="RiskAssessment.prediction.relativeRisk" />
<mustSupport value="true" />
</element>
<element id="RiskAssessment.prediction.when[x]">
<path value="RiskAssessment.prediction.when[x]" />
<mustSupport value="true" />
</element>
</differential>
</StructureDefinition>
{
"resourceType": "StructureDefinition",
"id": "mii-pr-molgen-polygener-risiko-score",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score",
"version": "2026.0.0-ballot",
"name": "MII_PR_MolGen_PolygenerRisikoScore",
"title": "MII PR MolGen Polygener Risiko Score",
"status": "active",
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Profil für Polygenen Risiko Score",
"fhirVersion": "4.0.1",
"kind": "resource",
"abstract": false,
"type": "RiskAssessment",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/RiskAssessment",
"derivation": "constraint",
"element": [
{
"id": "RiskAssessment.identifier",
"path": "RiskAssessment.identifier",
"mustSupport": true
},
{
"id": "RiskAssessment.status",
"path": "RiskAssessment.status",
"mustSupport": true
},
{
"id": "RiskAssessment.code",
"path": "RiskAssessment.code",
"mustSupport": true
},
{
"id": "RiskAssessment.subject",
"path": "RiskAssessment.subject",
"mustSupport": true
},
{
"id": "RiskAssessment.encounter",
"path": "RiskAssessment.encounter",
"mustSupport": true
},
{
"id": "RiskAssessment.occurrence[x]",
"path": "RiskAssessment.occurrence[x]",
"mustSupport": true
},
{
"id": "RiskAssessment.condition",
"path": "RiskAssessment.condition",
"mustSupport": true
},
{
"id": "RiskAssessment.basis",
"path": "RiskAssessment.basis",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction",
"path": "RiskAssessment.prediction",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.extension:whenCodeableConcept",
"path": "RiskAssessment.prediction.extension",
"sliceName": "whenCodeableConcept",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension",
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor"
]
}
],
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.outcome",
"path": "RiskAssessment.prediction.outcome",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.probability[x]",
"path": "RiskAssessment.prediction.probability[x]",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.qualitativeRisk",
"path": "RiskAssessment.prediction.qualitativeRisk",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.relativeRisk",
"path": "RiskAssessment.prediction.relativeRisk",
"mustSupport": true
},
{
"id": "RiskAssessment.prediction.when[x]",
"path": "RiskAssessment.prediction.when[x]",
"mustSupport": true
}
]
}
}

Extension

Einflussfaktor

Snapshot

id0..1string
extensionC0..0Extension
url1..1uriFixed Value
valueCodeableConceptCodeableConcept


Examples

{
"resourceType": "RiskAssessment",
"id": "mii-exa-molgen-prs-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score"
]
},
{
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor",
"coding": [
{
"code": "414152003",
"system": "http://snomed.info/sct",
"display": "European (ethnic group)"
}
],
"text": "Der verwendete Polygene Risikoscore wurde bisher nur für die europäische Bevölkerung bei Brustkrebs validiert und kann daher noch nicht auf andere Ethnizitäten und andere Tumor-Erkrankungen übertragen werden."
}
}
],
"outcome": {
"coding": [
{
"code": "718220008",
"system": "http://snomed.info/sct",
"display": "Hereditary breast and ovarian cancer syndrome (disorder)"
}
]
},
"coding": [
{
"code": "high",
"system": "http://terminology.hl7.org/CodeSystem/risk-probability",
"display": "High likelihood"
}
]
}
}
],
"status": "final",
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"occurrenceDateTime": "2022-11-01",
"basis": [
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
}
]
}