Medizininformatik Initiative - Modul Molekulargenetischer Befundbericht

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.

Name	Canonical
MII_PR_MolGen_PolygenerRisikoScore	https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score

Diff

RiskAssessment	I		RiskAssessment	There are no (further) constraints on this element Element Id RiskAssessment Short description Potential outcomes for a subject with likelihood Alternate names Prognosis Definition An assessment of the likely outcome(s) for a patient or other subject as well as the likelihood of each outcome. Data Type RiskAssessment Constraints dom-2:If the resource is contained in another resource, it SHALL NOT contain nested Resources `contained.contained.empty()` dom-4: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-3: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-6:A resource should have narrative for robust management text.`div`.exists() dom-5:If a resource is contained in another resource, it SHALL NOT have a security label `contained.meta.security.empty()` Mappings rim:Entity. Role, or Act workflow:Event v2:N/A rim:Observation[classCode=OBS, moodCode=EVN, code="Risk Assessment"] openehr:OpenEHR-EHR-EVALUATION.risk.v1
identifier	S Σ	0..*	Identifier	There are no (further) constraints on this element Element Id RiskAssessment.identifier Short description Unique identifier for the assessment Definition Business identifier assigned to the risk assessment. Data Type Identifier Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CX / EI (occasionally, more often EI maps to a resource id or a URL) rim:II - The Identifier class is a little looser than the v3 type II because it allows URIs as well as registered OIDs or GUIDs. Also maps to Role[classCode=IDENT] servd:Identifier workflow:Event.identifier w5:FiveWs.identifier rim:.id openehr:Workflow Identifier
basedOn	I	0..1	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.basedOn Short description Request fulfilled by this assessment Definition A reference to the request that is fulfilled by this risk assessment. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.basedOn
parent	I	0..1	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.parent Short description Part of this occurrence Definition A reference to a resource that this risk assessment is part of, such as a Procedure. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.partOf
status	S Σ	1..1	codeBinding	There are no (further) constraints on this element Element Id RiskAssessment.status Short description registered \| preliminary \| final \| amended + Definition The status of the RiskAssessment, using the same statuses as an Observation. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type code Binding The status of the risk assessment; e.g. preliminary, final, amended, etc. ObservationStatus (required) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a workflow:Event.status w5:FiveWs.status
method	Σ	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.method Short description Evaluation mechanism Definition The algorithm, process or mechanism used to evaluate the risk. Requirements The method can influence the results of the assessment. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc. (unbound) (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD w5:FiveWs.class rim:.methodCode
code	S Σ	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.code Short description Type of assessment Definition The type of the risk assessment performed. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD workflow:Event.code w5:FiveWs.what[x]
subject	S Σ I	1..1	MII-Reference(Patient \| Group)	Element Id RiskAssessment.subject Short description A reference from one resource to another Definition A reference from one resource to another. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type MII-Reference(Patient \| Group) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` mii-reference-1:Either reference.reference OR reference.identifier exists `($this.reference.exists() or ($this.identifier.value.exists() and $this.identifier.system.exists())) xor $this.extension('http://hl7.org/fhir/StructureDefinition/data-absent-reason').exists()` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.subject w5:FiveWs.subject[x] rim:.participation[typeCode=SBJ].role openehr:Subject of Care w5:FiveWs.subject
encounter	S Σ I	0..1	Reference(Encounter)	There are no (further) constraints on this element Element Id RiskAssessment.encounter Short description Where was assessment performed? Definition The encounter where the assessment was performed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Encounter) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.encounter w5:FiveWs.context rim:.inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
occurrence[x]	S Σ	0..1		There are no (further) constraints on this element Element Id RiskAssessment.occurrence[x] Short description When was assessment made? Definition The date (and possibly time) the risk assessment was performed. Requirements The assessment results lose validity the more time elapses from when they are first made. Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a workflow:Event.occurrence[x] w5:FiveWs.done[x] rim:.effectiveTime
occurrenceDateTime			dateTime	There are no (further) constraints on this element Data Type dateTime
occurrencePeriod			Period	There are no (further) constraints on this element Data Type Period
condition	S Σ I	0..1	Reference(Condition)	There are no (further) constraints on this element Element Id RiskAssessment.condition Short description Condition assessed Definition For assessments or prognosis specific to a particular condition, indicates the condition being assessed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Condition) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) rim:.outboundRelationship[typeCode=SUBJ].target[classCode=OBS, moodCode=EVN]
performer	Σ I	0..1	Reference(Practitioner \| PractitionerRole \| Device)	There are no (further) constraints on this element Element Id RiskAssessment.performer Short description Who did assessment? Definition The provider or software application that performed the assessment. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Practitioner \| PractitionerRole \| Device) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.performer.actor w5:FiveWs.actor rim:.participation[typeCode=PFM].role[classCode=ASSIGNED] openehr:Information Provider
reasonCode		0..*	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.reasonCode Short description Why the assessment was necessary? Definition The reason the risk assessment was performed. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD workflow:Event.reasonCode w5:FiveWs.why[x]
reasonReference	I	0..*	Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference)	There are no (further) constraints on this element Element Id RiskAssessment.reasonReference Short description Why the assessment was necessary? Definition Resources supporting the reason the risk assessment was performed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.reasonReference w5:FiveWs.why[x]
basis	S I	0..*	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.basis Short description Information used in assessment Definition Indicates the source data considered as part of the assessment (for example, FamilyHistory, Observations, Procedures, Conditions, etc.). Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) rim:.outboundRelationship[typeCode=DRIV].target openehr:Risk Factor; Link to Evidence
prediction	S I	0..*	BackboneElement	There are no (further) constraints on this element Element Id RiskAssessment.prediction Short description Outcome predicted Definition Describes the expected outcome for the subject. Comments Multiple repetitions can be used to identify the same type of outcome in different timeframes as well as different types of outcomes. Data Type BackboneElement Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ras-2:Must be <= 100 `probability is decimal implies (probability as decimal) <= 100` Mappings rim:n/a rim:.outboundRelationship[typeCode=VALUE].target[classCod=OBS, moodCode=RISK]
extension	I	0..*	Extension	Element Id RiskAssessment.prediction.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 Sliced: Unordered, Open, by url(Value) 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
whenCodeableConcept	S I	0..1	Extension(CodeableConcept)	Element Id RiskAssessment.prediction.extension:whenCodeableConcept Short description MII EX MolGen RiskAssessment Einflussfaktor Alternate names extensions, user content Definition Die Extension erweitert RiskAssessment.prediction um die Möglichkeit, weitere ausschlaggebende Faktoren mit Einfluss auf die Risikoberechnung anzugeben. 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(CodeableConcept) Extension URL https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor 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
outcome	S	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.prediction.outcome Short description Possible outcome for the subject Definition One of the potential outcomes for the patient (e.g. remission, death, a particular condition). Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The condition or other outcome; e.g. death, remission, amputation, infection, etc. (unbound) (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD rim:.value openehr:Risk
probability[x]	S I	0..1		There are no (further) constraints on this element Element Id RiskAssessment.prediction.probability[x] Short description Likelihood of specified outcome Definition Indicates how likely the outcome is (in the specified timeframe). Comments If range is used, it represents the lower and upper bounds of certainty; e.g. 40-60% Decimal values are expressed as percentages as well (max = 100). Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ras-1: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)))` Mappings rim:n/a rim:.inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="probability"].value openehr:Category
probabilityDecimal			decimal	There are no (further) constraints on this element Data Type decimal
probabilityRange			Range	There are no (further) constraints on this element Data Type Range
qualitativeRisk	S	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.prediction.qualitativeRisk Short description Likelihood of specified outcome as a qualitative value Definition Indicates how likely the outcome is (in the specified timeframe), expressed as a qualitative value (e.g. low, medium, or high). Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The likelihood of the occurrence of a specified outcome. RiskProbability (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
relativeRisk	S	0..1	decimal	There are no (further) constraints on this element Element Id RiskAssessment.prediction.relativeRisk Short description Relative likelihood Definition Indicates the risk for this particular subject (with their specific characteristics) divided by the risk of the population in general. (Numbers greater than 1 = higher risk than the population, numbers less than 1 = lower risk.). Requirements Absolute risk is less meaningful than relative risk. Comments Do not use an IEEE type floating point type, instead use something that works like a true decimal, with inbuilt precision (e.g. Java BigInteger) Data Type decimal Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="relative risk"].value
when[x]	S	0..1		There are no (further) constraints on this element Element Id RiskAssessment.prediction.when[x] Short description Timeframe or age range Definition Indicates the period of time or age range of the subject to which the specified probability applies. Comments If not specified, the risk applies "over the subject's lifespan". Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.effectiveTime or .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="age"].value
whenPeriod			Period	There are no (further) constraints on this element Data Type Period
whenRange			Range	There are no (further) constraints on this element Data Type Range
rationale		0..1	string	There are no (further) constraints on this element Element Id RiskAssessment.prediction.rationale Short description Explanation of prediction Definition Additional information explaining the basis for the prediction. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type string Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.reasonCode.text openehr:Rationale
mitigation		0..1	string	There are no (further) constraints on this element Element Id RiskAssessment.mitigation Short description How to reduce risk Definition A description of the steps that might be taken to reduce the identified risk(s). Requirements One of the main reasons for assessing risks is to identify whether interventional steps are needed to reduce risk. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type string Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.outboundRelationship[typeCode=MTGT].target[classCode=ACT, moodCode=EVN].text
note		0..*	Annotation	There are no (further) constraints on this element Element Id RiskAssessment.note Short description Comments on the risk assessment Definition Additional comments about the risk assessment. Comments For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible). Data Type Annotation Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:N/A rim:Act workflow:Event.note

Snapshot

RiskAssessment	I		RiskAssessment	There are no (further) constraints on this element Element Id RiskAssessment Short description Potential outcomes for a subject with likelihood Alternate names Prognosis Definition An assessment of the likely outcome(s) for a patient or other subject as well as the likelihood of each outcome. Data Type RiskAssessment Constraints dom-2:If the resource is contained in another resource, it SHALL NOT contain nested Resources `contained.contained.empty()` dom-4: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-3: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-6:A resource should have narrative for robust management text.`div`.exists() dom-5:If a resource is contained in another resource, it SHALL NOT have a security label `contained.meta.security.empty()` Mappings rim:Entity. Role, or Act workflow:Event v2:N/A rim:Observation[classCode=OBS, moodCode=EVN, code="Risk Assessment"] openehr:OpenEHR-EHR-EVALUATION.risk.v1
identifier	S Σ	0..*	Identifier	There are no (further) constraints on this element Element Id RiskAssessment.identifier Short description Unique identifier for the assessment Definition Business identifier assigned to the risk assessment. Data Type Identifier Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CX / EI (occasionally, more often EI maps to a resource id or a URL) rim:II - The Identifier class is a little looser than the v3 type II because it allows URIs as well as registered OIDs or GUIDs. Also maps to Role[classCode=IDENT] servd:Identifier workflow:Event.identifier w5:FiveWs.identifier rim:.id openehr:Workflow Identifier
basedOn	I	0..1	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.basedOn Short description Request fulfilled by this assessment Definition A reference to the request that is fulfilled by this risk assessment. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.basedOn
parent	I	0..1	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.parent Short description Part of this occurrence Definition A reference to a resource that this risk assessment is part of, such as a Procedure. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.partOf
status	S Σ	1..1	codeBinding	There are no (further) constraints on this element Element Id RiskAssessment.status Short description registered \| preliminary \| final \| amended + Definition The status of the RiskAssessment, using the same statuses as an Observation. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type code Binding The status of the risk assessment; e.g. preliminary, final, amended, etc. ObservationStatus (required) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a workflow:Event.status w5:FiveWs.status
method	Σ	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.method Short description Evaluation mechanism Definition The algorithm, process or mechanism used to evaluate the risk. Requirements The method can influence the results of the assessment. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc. (unbound) (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD w5:FiveWs.class rim:.methodCode
code	S Σ	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.code Short description Type of assessment Definition The type of the risk assessment performed. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD workflow:Event.code w5:FiveWs.what[x]
subject	S Σ I	1..1	MII-Reference(Patient \| Group)	Element Id RiskAssessment.subject Short description A reference from one resource to another Definition A reference from one resource to another. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type MII-Reference(Patient \| Group) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` mii-reference-1:Either reference.reference OR reference.identifier exists `($this.reference.exists() or ($this.identifier.value.exists() and $this.identifier.system.exists())) xor $this.extension('http://hl7.org/fhir/StructureDefinition/data-absent-reason').exists()` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.subject w5:FiveWs.subject[x] rim:.participation[typeCode=SBJ].role openehr:Subject of Care w5:FiveWs.subject
encounter	S Σ I	0..1	Reference(Encounter)	There are no (further) constraints on this element Element Id RiskAssessment.encounter Short description Where was assessment performed? Definition The encounter where the assessment was performed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Encounter) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.encounter w5:FiveWs.context rim:.inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
occurrence[x]	S Σ	0..1		There are no (further) constraints on this element Element Id RiskAssessment.occurrence[x] Short description When was assessment made? Definition The date (and possibly time) the risk assessment was performed. Requirements The assessment results lose validity the more time elapses from when they are first made. Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a workflow:Event.occurrence[x] w5:FiveWs.done[x] rim:.effectiveTime
occurrenceDateTime			dateTime	There are no (further) constraints on this element Data Type dateTime
occurrencePeriod			Period	There are no (further) constraints on this element Data Type Period
condition	S Σ I	0..1	Reference(Condition)	There are no (further) constraints on this element Element Id RiskAssessment.condition Short description Condition assessed Definition For assessments or prognosis specific to a particular condition, indicates the condition being assessed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Condition) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) rim:.outboundRelationship[typeCode=SUBJ].target[classCode=OBS, moodCode=EVN]
performer	Σ I	0..1	Reference(Practitioner \| PractitionerRole \| Device)	There are no (further) constraints on this element Element Id RiskAssessment.performer Short description Who did assessment? Definition The provider or software application that performed the assessment. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Practitioner \| PractitionerRole \| Device) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.performer.actor w5:FiveWs.actor rim:.participation[typeCode=PFM].role[classCode=ASSIGNED] openehr:Information Provider
reasonCode		0..*	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.reasonCode Short description Why the assessment was necessary? Definition The reason the risk assessment was performed. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD workflow:Event.reasonCode w5:FiveWs.why[x]
reasonReference	I	0..*	Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference)	There are no (further) constraints on this element Element Id RiskAssessment.reasonReference Short description Why the assessment was necessary? Definition Resources supporting the reason the risk assessment was performed. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow:Event.reasonReference w5:FiveWs.why[x]
basis	S I	0..*	Reference(Resource)	There are no (further) constraints on this element Element Id RiskAssessment.basis Short description Information used in assessment Definition Indicates the source data considered as part of the assessment (for example, FamilyHistory, Observations, Procedures, Conditions, etc.). Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data Type Reference(Resource) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1:SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim:n/a rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity) rim:.outboundRelationship[typeCode=DRIV].target openehr:Risk Factor; Link to Evidence
prediction	S I	0..*	BackboneElement	There are no (further) constraints on this element Element Id RiskAssessment.prediction Short description Outcome predicted Definition Describes the expected outcome for the subject. Comments Multiple repetitions can be used to identify the same type of outcome in different timeframes as well as different types of outcomes. Data Type BackboneElement Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ras-2:Must be <= 100 `probability is decimal implies (probability as decimal) <= 100` Mappings rim:n/a rim:.outboundRelationship[typeCode=VALUE].target[classCod=OBS, moodCode=RISK]
extension	I	0..*	Extension	Element Id RiskAssessment.prediction.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 Sliced: Unordered, Open, by url(Value) 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
whenCodeableConcept	S I	0..1	Extension(CodeableConcept)	Element Id RiskAssessment.prediction.extension:whenCodeableConcept Short description MII EX MolGen RiskAssessment Einflussfaktor Alternate names extensions, user content Definition Die Extension erweitert RiskAssessment.prediction um die Möglichkeit, weitere ausschlaggebende Faktoren mit Einfluss auf die Risikoberechnung anzugeben. 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(CodeableConcept) Extension URL https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor 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
outcome	S	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.prediction.outcome Short description Possible outcome for the subject Definition One of the potential outcomes for the patient (e.g. remission, death, a particular condition). Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The condition or other outcome; e.g. death, remission, amputation, infection, etc. (unbound) (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD rim:.value openehr:Risk
probability[x]	S I	0..1		There are no (further) constraints on this element Element Id RiskAssessment.prediction.probability[x] Short description Likelihood of specified outcome Definition Indicates how likely the outcome is (in the specified timeframe). Comments If range is used, it represents the lower and upper bounds of certainty; e.g. 40-60% Decimal values are expressed as percentages as well (max = 100). Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ras-1: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)))` Mappings rim:n/a rim:.inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="probability"].value openehr:Category
probabilityDecimal			decimal	There are no (further) constraints on this element Data Type decimal
probabilityRange			Range	There are no (further) constraints on this element Data Type Range
qualitativeRisk	S	0..1	CodeableConcept	There are no (further) constraints on this element Element Id RiskAssessment.prediction.qualitativeRisk Short description Likelihood of specified outcome as a qualitative value Definition Indicates how likely the outcome is (in the specified timeframe), expressed as a qualitative value (e.g. low, medium, or high). Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data Type CodeableConcept Binding The likelihood of the occurrence of a specified outcome. RiskProbability (example) Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:CE/CNE/CWE rim:CD orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
relativeRisk	S	0..1	decimal	There are no (further) constraints on this element Element Id RiskAssessment.prediction.relativeRisk Short description Relative likelihood Definition Indicates the risk for this particular subject (with their specific characteristics) divided by the risk of the population in general. (Numbers greater than 1 = higher risk than the population, numbers less than 1 = lower risk.). Requirements Absolute risk is less meaningful than relative risk. Comments Do not use an IEEE type floating point type, instead use something that works like a true decimal, with inbuilt precision (e.g. Java BigInteger) Data Type decimal Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="relative risk"].value
when[x]	S	0..1		There are no (further) constraints on this element Element Id RiskAssessment.prediction.when[x] Short description Timeframe or age range Definition Indicates the period of time or age range of the subject to which the specified probability applies. Comments If not specified, the risk applies "over the subject's lifespan". Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.effectiveTime or .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="age"].value
whenPeriod			Period	There are no (further) constraints on this element Data Type Period
whenRange			Range	There are no (further) constraints on this element Data Type Range
rationale		0..1	string	There are no (further) constraints on this element Element Id RiskAssessment.prediction.rationale Short description Explanation of prediction Definition Additional information explaining the basis for the prediction. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type string Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.reasonCode.text openehr:Rationale
mitigation		0..1	string	There are no (further) constraints on this element Element Id RiskAssessment.mitigation Short description How to reduce risk Definition A description of the steps that might be taken to reduce the identified risk(s). Requirements One of the main reasons for assessing risks is to identify whether interventional steps are needed to reduce risk. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data Type string Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a rim:.outboundRelationship[typeCode=MTGT].target[classCode=ACT, moodCode=EVN].text
note		0..*	Annotation	There are no (further) constraints on this element Element Id RiskAssessment.note Short description Comments on the risk assessment Definition Additional comments about the risk assessment. Comments For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible). Data Type Annotation Constraints ele-1:All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim:n/a v2:N/A rim:Act workflow:Event.note

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

Extension	I		Extension	Element Id Extension Short description MII EX MolGen RiskAssessment Einflussfaktor Definition Die Extension erweitert RiskAssessment.prediction um die Möglichkeit, weitere ausschlaggebende Faktoren mit Einfluss auf die Risikoberechnung anzugeben. 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 rim:N/A
extension	I	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 Sliced: Unordered, Open, by url(Value) 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
url		1..1	System.StringFixed 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 System.String Fixed Value https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor Mappings rim:N/A
value[x]		0..1		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 rim:N/A
valueCodeableConcept			CodeableConcept	Data Type CodeableConcept

Examples

{
    "resourceType": "RiskAssessment",
    "id": "mii-exa-molgen-prs-brca1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score"
        ]
    },
    "prediction":  [
        {
            "extension":  [
                {
                    "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor",
                    "valueCodeableConcept": {
                        "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)"
                    }
                ]
            },
            "qualitativeRisk": {
                "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"
        }
    ]
}