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.
| Name | Status | Version | Canonical | Basis |
|---|---|---|---|---|
| MII_PR_MolGen_PolygenerRisikoScore | active | 2026.0.0-ballot | https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score | http://hl7.org/fhir/StructureDefinition/RiskAssessment |
| MII_PR_MolGen_PolygenerRisikoScore (RiskAssessment) | C | RiskAssessment | |
| id | Σ | 0..1 | string |
| meta | Σ | 0..1 | Meta |
| implicitRules | Σ ?! | 0..1 | uri |
| language | 0..1 | codeBinding | |
| text | 0..1 | Narrative | |
| contained | 0..* | Resource | |
| extension | C | 0..* | Extension |
| modifierExtension | ?! C | 0..* | Extension |
| identifier | S Σ | 0..* | Identifier |
| basedOn | 0..1 | Reference(Resource) | |
| parent | 0..1 | Reference(Resource) | |
| status | S Σ | 1..1 | codeBinding |
| method | Σ | 0..1 | CodeableConcept |
| code | S Σ | 0..1 | CodeableConcept |
| subject | S Σ | 1..1 | Reference(Patient | Group) |
| encounter | S Σ | 0..1 | Reference(Encounter) |
| occurrence[x] | S Σ | 0..1 | |
| occurrenceDateTime | dateTime | ||
| occurrencePeriod | Period | ||
| condition | S Σ | 0..1 | Reference(Condition) |
| performer | Σ | 0..1 | Reference(Practitioner | PractitionerRole | Device) |
| reasonCode | 0..* | CodeableConcept | |
| reasonReference | 0..* | Reference(Condition | Observation | DiagnosticReport | DocumentReference) | |
| basis | S | 0..* | Reference(Resource) |
| prediction | S C | 0..* | BackboneElement |
| id | 0..1 | string | |
| extension | C | 0..* | Extension |
| whenCodeableConcept | S C | 0..1 | Extension(CodeableConcept) |
| modifierExtension | Σ ?! C | 0..* | Extension |
| outcome | S | 0..1 | CodeableConcept |
| probability[x] | S C | 0..1 | |
| probabilityDecimal | decimal | ||
| probabilityRange | Range | ||
| qualitativeRisk | S | 0..1 | CodeableConcept |
| relativeRisk | S | 0..1 | decimal |
| when[x] | S | 0..1 | |
| whenPeriod | Period | ||
| whenRange | Range | ||
| rationale | 0..1 | string | |
| mitigation | 0..1 | string | |
| note | 0..* | 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] |
Einflussfaktor
Snapshot
Examples