Medizininformatik Initiative - ImplementationGuide - 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.
| Name | Status | Version | Canonical | Basis |
|---|---|---|---|---|
| MII_PR_MolGen_PolygenerRisikoScore | active | 2026.0.4 | https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score | http://hl7.org/fhir/StructureDefinition/RiskAssessment |
Profil
| MII_PR_MolGen_PolygenerRisikoScore (RiskAssessment) | C | RiskAssessment | |
| id | Σ | 0..1 | id |
| 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 | C | 0..1 | Reference(Resource) |
| parent | C | 0..1 | Reference(Resource) |
| status | S Σ | 1..1 | codeBinding |
| method | Σ | 0..1 | CodeableConcept |
| code | S Σ | 0..1 | CodeableConcept |
| subject | S Σ C | 1..1 | Reference(Group | Patient) |
| encounter | S Σ C | 0..1 | Reference(Encounter) |
| occurrence[x] | S Σ | 0..1 | |
| occurrenceDateTime | dateTime | ||
| occurrencePeriod | Period | ||
| condition | S Σ C | 0..1 | Reference(Condition) |
| performer | Σ C | 0..1 | Reference(Device | Practitioner | PractitionerRole) |
| reasonCode | 0..* | CodeableConcept | |
| reasonReference | C | 0..* | Reference(Condition | DiagnosticReport | DocumentReference | Observation) |
| basis | S C | 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 | Kurzbeschreibung |
|---|---|
| RiskAssessment.identifier | Identifikator |
| RiskAssessment.status | Status |
| RiskAssessment.code | Code |
| RiskAssessment.subject | Patient |
| RiskAssessment.encounter | Kontakt |
| RiskAssessment.occurrence[x] | Zeitpunkt |
| RiskAssessment.condition | Erkrankung |
| RiskAssessment.basis | Grundlage |
| RiskAssessment.prediction | Vorhersage |
| RiskAssessment.prediction.extension:whenCodeableConcept | Einflussfaktor |
| RiskAssessment.prediction.outcome | Ergebnis |
| RiskAssessment.prediction.probability[x] | Wahrscheinlichkeit |
| RiskAssessment.prediction.qualitativeRisk | Qualitatives Risiko |
| RiskAssessment.prediction.relativeRisk | Relatives Risiko |
| RiskAssessment.prediction.when[x] | Zeitrahmen |
<url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score" />
</telecom>
</contact>
<definition value="An assessment of the likely outcome(s) for a patient or other subject as well as the likelihood of each outcome." />
</base>
<human value="If the resource is contained in another resource, it SHALL NOT contain nested Resources" />
</constraint>
<human value="If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated" />
<xpath value="not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated))" />
</constraint>
<human value="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" />
<expression value="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()" />
<xpath value="not(exists(for $id in f:contained/*/f:id/@value return $contained[not(parent::*/descendant::f:reference/@value=concat('#', $contained/*/id/@value) or descendant::f:reference[@value='#'])]))" />
</constraint>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice-explanation">
<valueMarkdown value="When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a human readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time." />
</extension>
</constraint>
<human value="If a resource is contained in another resource, it SHALL NOT have a security label" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
<definition value="The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes." />
<comment value="The only time that a resource does not have an id is when it is being submitted to the server using a create operation." />
</base>
</extension>
</type>
</element>
<definition value="The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</element>
<definition value="A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc." />
<comment value="Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc." />
</base>
</type>
</constraint>
<isModifierReason value="This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation" />
</mapping>
</element>
<comment value="Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute)." />
</base>
</type>
</constraint>
</extension>
</extension>
</binding>
</mapping>
</element>
<definition value="A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety." />
<comment value="Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</element>
<definition value="These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope." />
<comment value="This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels." />
</base>
</type>
</mapping>
</mapping>
</element>
</discriminator>
</slicing>
<definition value="May be used to represent additional information that is not part of the basic definition of the resource. 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." />
<comment value="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." />
</base>
</type>
</constraint>
</constraint>
</mapping>
</mapping>
</element>
</discriminator>
</slicing>
<definition value="May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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 is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." />
<comment value="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." />
<requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)." />
</base>
</type>
</constraint>
</constraint>
<isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them" />
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</base>
</type>
</constraint>
</mapping>
</mapping>
<map value="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]" />
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</element>
<definition value="A reference to a resource that this risk assessment is part of, such as a Procedure." />
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</base>
</type>
</constraint>
</extension>
</binding>
</mapping>
</mapping>
</mapping>
</element>
<comment value="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." />
</base>
</type>
</constraint>
</extension>
<description value="The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc." />
</binding>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<requirements value="The assessment results lose validity the more time elapses from when they are first made." />
</base>
</type>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</element>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
<comment value="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." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
<definition value="Die Grundlagen auf denen die Risikobewertung basiert wie z.B. genetische Varianten">
</extension>
<valueString value="Die Grundlagen auf denen die Risikobewertung basiert wie z.B. genetische Varianten" />
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
<expression value="reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))" />
<xpath value="not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])" />
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="Multiple repetitions can be used to identify the same type of outcome in different timeframes as well as different types of outcomes." />
</base>
</type>
</constraint>
</constraint>
</mapping>
</mapping>
</element>
<definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." />
</base>
</extension>
</type>
</mapping>
</element>
</discriminator>
</slicing>
<definition value="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." />
<comment value="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." />
</base>
</type>
</constraint>
</constraint>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
<profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor" />
</type>
</constraint>
</constraint>
</mapping>
</mapping>
</element>
<definition value="May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." />
<comment value="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." />
<requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)." />
</base>
</type>
</constraint>
</constraint>
<isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" />
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
</extension>
<description value="The condition or other outcome; e.g. death, remission, amputation, infection, etc." />
</binding>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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)." />
</base>
</type>
</type>
</constraint>
<expression value="(low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))" />
<xpath value="(not(f:low) or f:low[f:code/@value='%' and f:system/@value='http://unitsofmeasure.org']) and (not(f:high) or f:high[f:code/@value='%' and f:system/@value='http://unitsofmeasure.org'])" />
</constraint>
</mapping>
<map value=".inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="probability"].value" />
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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." />
</base>
</type>
</constraint>
</extension>
</binding>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<comment value="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)" />
</base>
</type>
</constraint>
</mapping>
<map value=".inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="relative risk"].value" />
</mapping>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</base>
</type>
</type>
</constraint>
</mapping>
<map value=".effectiveTime or .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="age"].value" />
</mapping>
</element>
</base>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</element>
<definition value="A description of the steps that might be taken to reduce the identified risk(s)." />
<requirements value="One of the main reasons for assessing risks is to identify whether interventional steps are needed to reduce risk." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</element>
<comment value="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)." />
</base>
</type>
</constraint>
</mapping>
</mapping>
</mapping>
</mapping>
</element>
</snapshot>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
<definition value="Die Grundlagen auf denen die Risikobewertung basiert wie z.B. genetische Varianten">
</extension>
<valueString value="Die Grundlagen auf denen die Risikobewertung basiert wie z.B. genetische Varianten" />
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
<profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor" />
</type>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</extension>
</extension>
</extension>
</short>
</extension>
</extension>
</extension>
</definition>
</element>
</differential>
</StructureDefinition>
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score",
],
{
"definition": "An assessment of the likely outcome(s) for a patient or other subject as well as the likelihood of each outcome.",
"Prognosis"
],
},
{
},
{
"human": "If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated",
"xpath": "not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated))",
},
{
"human": "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",
"expression": "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()",
"xpath": "not(exists(for $id in f:contained/*/f:id/@value return $contained[not(parent::*/descendant::f:reference/@value=concat('#', $contained/*/id/@value) or descendant::f:reference[@value='#'])]))",
},
{
{
},
{
"valueMarkdown": "When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a human readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time."
}
],
},
{
}
],
{
},
{
},
{
},
{
},
{
}
]
},
{
"definition": "The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.",
"comment": "The only time that a resource does not have an id is when it is being submitted to the server using a create operation.",
},
{
{
}
],
}
],
},
{
"definition": "The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.",
},
],
"ele-1"
],
{
}
],
]
},
{
"definition": "A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.",
"comment": "Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.",
},
],
"ele-1"
],
{
}
],
"isModifierReason": "This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation",
]
},
{
"comment": "Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).",
},
],
"ele-1"
],
{
}
],
{
},
{
}
],
},
]
},
{
"definition": "A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it \"clinically safe\" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.",
"comment": "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a \"text blob\" or where text is additionally entered raw or narrated and encoded information is added later.",
"narrative",
"html",
"xhtml",
"display"
],
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
}
]
},
{
"definition": "These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.",
"comment": "This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.",
"inline resources",
"anonymous resources",
"contained resources"
],
},
],
]
},
{
],
},
"definition": "May be used to represent additional information that is not part of the basic definition of the resource. 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.",
"comment": "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.",
"extensions",
"user content"
],
},
],
"ele-1"
],
{
},
{
}
],
]
},
{
],
},
"definition": "May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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 is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "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.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension).",
"extensions",
"user content"
],
},
],
"ele-1"
],
{
},
{
}
],
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them",
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
"map": "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]"
},
{
},
{
},
{
},
{
},
{
}
]
},
{
"comment": "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.",
},
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
}
]
},
{
"definition": "A reference to a resource that this risk assessment is part of, such as a Procedure.",
"comment": "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.",
},
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
],
"ele-1"
],
{
}
],
{
}
],
},
{
},
{
},
{
}
]
},
{
"comment": "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.",
},
],
"ele-1"
],
{
}
],
{
}
],
"description": "The mechanism or algorithm used to make the assessment; e.g. TIMI, PRISM, Cardiff Type 2 diabetes, etc."
},
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
{
"http://hl7.org/fhir/StructureDefinition/Patient",
"http://hl7.org/fhir/StructureDefinition/Group"
]
}
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"requirements": "The assessment results lose validity the more time elapses from when they are first made.",
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
}
]
},
{
"comment": "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.",
},
{
"http://hl7.org/fhir/StructureDefinition/Practitioner",
"http://hl7.org/fhir/StructureDefinition/PractitionerRole",
"http://hl7.org/fhir/StructureDefinition/Device"
]
}
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
"comment": "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.",
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
"comment": "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.",
},
{
"http://hl7.org/fhir/StructureDefinition/Condition",
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DiagnosticReport",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
},
{
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])",
}
],
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "Multiple repetitions can be used to identify the same type of outcome in different timeframes as well as different types of outcomes.",
},
],
"ele-1"
],
{
},
{
}
],
{
},
{
}
]
},
{
"xmlAttr"
],
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
},
{
{
}
],
}
],
]
},
{
],
},
"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.",
"comment": "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.",
"extensions",
"user content"
],
},
],
"ele-1"
],
{
},
{
}
],
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
"extensions",
"user content"
],
},
{
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor"
]
}
],
"ele-1"
],
{
},
{
}
],
]
},
{
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "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.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension).",
"extensions",
"user content",
"modifiers"
],
},
],
"ele-1"
],
{
},
{
}
],
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
}
],
{
}
],
},
{
},
{
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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).",
},
],
"ele-1"
],
{
},
{
"expression": "(low.empty() or ((low.code = '%') and (low.system = %ucum))) and (high.empty() or ((high.code = '%') and (high.system = %ucum)))",
"xpath": "(not(f:low) or f:low[f:code/@value='%' and f:system/@value='http://unitsofmeasure.org']) and (not(f:high) or f:high[f:code/@value='%' and f:system/@value='http://unitsofmeasure.org'])",
}
],
{
},
{
"map": ".inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=\"probability\"].value"
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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.",
},
],
"ele-1"
],
{
}
],
{
}
],
},
{
},
{
},
{
},
{
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
"comment": "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)",
},
],
"ele-1"
],
{
}
],
{
},
{
"map": ".inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=\"relative risk\"].value"
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
],
"ele-1"
],
{
}
],
{
},
{
"map": ".effectiveTime or .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=\"age\"].value"
}
]
},
{
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
}
]
},
{
"requirements": "One of the main reasons for assessing risks is to identify whether interventional steps are needed to reduce risk.",
},
],
"ele-1"
],
{
}
],
{
},
{
}
]
},
{
"comment": "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).",
},
],
"ele-1"
],
{
}
],
{
},
{
},
{
},
{
}
]
}
]
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
{
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor"
]
}
],
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
},
{
{
],
}
]
},
{
{
},
{
}
],
}
]
},
}
]
}
}
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
{
"resourceType": "RiskAssessment",
"id": "mii-exa-molgen-prs-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score|2027.0.0-ballot.1"
]
},
"status": "final",
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"occurrenceDateTime": "2022-11-01",
"basis": [
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
}
],
"prediction": [
{
"extension": [
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor",
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "414152003",
"display": "European (ethnic group)"
}
],
"text": "Der verwendete Polygene Risikoscore wurde bisher nur für die europäische Bevölkerung bei Brustkrebs validiert."
}
}
],
"outcome": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "718220008",
"display": "Hereditary breast and ovarian cancer syndrome (disorder)"
}
]
},
"qualitativeRisk": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/risk-probability",
"code": "high",
"display": "High likelihood"
}
]
}
}
]
}