Befundbericht - DiagnosticReport
Beschreibung
Dieses Profil beschreibt molekulargenetischen Befundbericht der Medizininformatik-Initiative.
Das Profil ist abgeleitet vom Profil Genomics Report aus HL7 Genomics Reporting Implementation Guide.
Für den Use Case, dass die EBM Abrechnungsziffern in einem Befund angegeben werden,
wird die Supporting Information Extension in DiagnosticReport.extension mit Reference auf ChargeItem Ressource verwendet.
Ein passendes Profil für ChargeItem kann aus den deutschen FHIR Basisprofilen verwendet werden.
Diff
| DiagnosticReport | I | | DiagnosticReport | Element IdShort description A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports Alternate names Report, Test, Result, Results, Labs, Laboratory Definition The findings and interpretation of diagnostic tests performed on patients, groups of patients, devices, and locations, and/or specimens derived from these. The report includes clinical context such as requesting and provider information, and some mix of atomic results, images, textual and coded interpretations, and formatted representation of diagnostic reports.
This is intended to capture a single report and is not suitable for use in displaying summary information that covers multiple reports. For example, this resource has not been designed for laboratory cumulative reporting formats nor detailed structured reports for sequencing.
DiagnosticReport 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()
- rim:Entity. Role, or Act
- workflow:Event
- v2:ORU -> OBR
- rim:Observation[classCode=OBS, moodCode=EVN]
- MII-KDS:mide-dataelement-1371
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| extension | I | 0..* | Extension | There are no (further) constraints on this element Element IdDiagnosticReport.extension 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 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.
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.
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()
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| genomics-artifact | S I | 0..* | Extension(RelatedArtifact) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-artifact Genomics Artifact Alternate names extensions, user content Definition Captures citations, evidence and other supporting documentation for the observation or report.
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.
Extension(RelatedArtifact) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact 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()
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| genomics-file | S I | 0..* | Extension(Reference(Genomics DocumentReference)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-file Genomics File Alternate names extensions, user content Definition Used to transmit the contents of or links to files that were produced as part of the testing process. Examples are VCF, BAM, CRAM, and other similar files.
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.
Extension(Reference(Genomics DocumentReference)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file 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()
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| recommended-action | S I | 0..* | Extension(Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme)) | Element IdDiagnosticReport.extension:recommended-action MII EX MolGen Empfohlene Maßnahme Alternate names extensions, user content Definition Die Extension verweist auf eine vorgeschlagene Maßnahme, die auf der Grundlage der Ergebnisse des Befundberichts empfohlen wird.
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.
Extension(Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme)) Extension URL https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme 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()
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| genomics-risk-assessment | S I | 0..* | Extension(Reference(RiskAssessment)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-risk-assessment Genomics Risk Assessment Alternate names extensions, user content Definition RiskAssessment delivered as part of a genomics report or observation
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.
Extension(Reference(RiskAssessment)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment 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()
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| coded-note | S I | 0..* | Extension(Coded Annotation) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:coded-note Comments about the report that also contain a coded type Alternate names extensions, user content Definition Adds codified notes to a report to capture additional content
Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.
May include general statements about the report, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation.
The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of results or conclusion or conclusionCode.
One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.
Extension(Coded Annotation) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note 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()
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| supporting-info | S I | 0..* | Extension(Reference(Resource)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:supporting-info Other information that may be relevant to this event. Alternate names extensions, user content Definition Other resources from the patient record that may be relevant to the event. The information from these resources was either used to create the instance or is provided to help with its interpretation. This extension should not be used if more specific inline elements or extensions are available. For example, use Observation.hasMember instead of supportingInformation for representing the members of an Observation panel.
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.
Extension(Reference(Resource)) Extension URL http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo 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()
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| identifier | Σ | 0..* | Identifier | There are no (further) constraints on this element Element IdDiagnosticReport.identifier Business identifier for report Alternate names ReportID, Filler ID, Placer ID Definition Identifiers assigned to this report by the performer or other systems.
Need to know what identifier to use when making queries about this report from the source laboratory, and for linking to the report outside FHIR context.
Usually assigned by the Information System of the diagnostic service provider (filler id).
Identifier Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- 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
- v2:OBR-51/ for globally unique filler ID - OBR-3 , For non-globally unique filler-id the flller/placer number must be combined with the universal service Id - OBR-2(if present)+OBR-3+OBR-4
- rim:id
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| basedOn | I | 0..* | Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | There are no (further) constraints on this element Element IdShort description What was requested Alternate names Request Definition Details concerning a service requested.
This allows tracing of authorization for the report and tracking whether proposals/recommendations were acted upon.
Note: Usually there is one test request for each result, however in some circumstances multiple test requests may be represented using a single test result resource. Note that there are also cases where one request leads to multiple reports.
Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- workflow:Event.basedOn
- v2:ORC? OBR-2/3?
- rim:outboundRelationship[typeCode=FLFS].target
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| status | S Σ ?! | 1..1 | codeBinding | Element IdShort description registered | partial | preliminary | final + Alternate names Berichtstatus Definition The status of the diagnostic report.
Diagnostic services routinely issue provisional/incomplete reports, and sometimes withdraw previously released reports.
Note that FHIR strings SHALL NOT exceed 1MB in size
code Binding The status of the diagnostic report. DiagnosticReportStatus (required)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- workflow:Event.status
- w5:FiveWs.status
- v2:OBR-25 (not 1:1 mapping)
- rim:statusCode Note: final and amended are distinguished by whether observation is the subject of a ControlAct event of type "revise"
- MII-KDS:mide-dataelement-1448
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| category | Σ | 1..* | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.category Service category Alternate names Department, Sub-department, Service, Discipline Definition A code that classifies the clinical discipline, department or diagnostic service that created the report (e.g. cardiology, biochemistry, hematology, MRI). This is used for searching, sorting and display purposes.
Multiple categories are allowed using various categorization schemes. The level of granularity is defined by the category concepts in the value set. More fine-grained filtering can be performed using the metadata and/or terminology hierarchy in DiagnosticReport.code.
CodeableConcept Sliced: Unordered, Open, by coding(Pattern) Binding Codes for diagnostic service sections. DiagnosticServiceSectionCodes (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- w5:FiveWs.class
- v2:OBR-24
- rim:inboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
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| Genetics | Σ | 1..1 | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics Service category Alternate names Department, Sub-department, Service, Discipline Definition A code that classifies the clinical discipline, department or diagnostic service that created the report (e.g. cardiology, biochemistry, hematology, MRI). This is used for searching, sorting and display purposes.
Multiple categories are allowed using various categorization schemes. The level of granularity is defined by the category concepts in the value set. More fine-grained filtering can be performed using the metadata and/or terminology hierarchy in DiagnosticReport.code.
CodeableConcept Binding Codes for diagnostic service sections. DiagnosticServiceSectionCodes (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- w5:FiveWs.class
- v2:OBR-24
- rim:inboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
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| coding | Σ | 1..* | CodingPattern | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics.coding Code defined by a terminology system Definition A reference to a code defined by a terminology system.
Allows for alternative encodings within a code system, and translations to other code systems.
Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.
Coding Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
} Mappings- rim:n/a
- v2:CE/CNE/CWE subset one of the sets of component 1-3 or 4-6
- rim:CV
- orim:fhir:Coding rdfs:subClassOf dt:CDCoding
- v2:C*E.1-8, C*E.10-22
- rim:union(., ./translation)
- orim:fhir:CodeableConcept.coding rdfs:subPropertyOf dt:CD.coding
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| text | Σ | 0..1 | string | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics.text Plain text representation of the concept Definition A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.
The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.
Very often the text is the same as a displayName of one of the codings.
string Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:C*E.9. But note many systems use C*E.2 for this
- rim:./originalText[mediaType/code="text/plain"]/data
- orim:fhir:CodeableConcept.text rdfs:subPropertyOf dt:CD.originalText
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| code | Σ | 1..1 | CodeableConceptBinding | There are no (further) constraints on this element Element IdShort description Name/Code for this diagnostic report Alternate names Type Definition A code or name that describes this diagnostic report.
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.
CodeableConcept Binding Codes that describe Diagnostic Reports. LOINCDiagnosticReportCodes (preferred)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- workflow:Event.code
- w5:FiveWs.what[x]
- v2:OBR-4 (HL7 v2 doesn't provide an easy way to indicate both the ordered test and the performed panel)
- rim:code
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| subject | S Σ I | 1..1 | MII-Reference(Patient | Group) | Element IdShort description A reference from one resource to another Alternate names Patient Definition A reference from one resource to another.
SHALL know the subject context.
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.
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()
- 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]
- v2:PID-3 (no HL7 v2 mapping for Group or Device)
- rim:participation[typeCode=SBJ]
- w5:FiveWs.subject
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| encounter | S Σ I | 0..1 | Reference(Encounter) | There are no (further) constraints on this element Element IdDiagnosticReport.encounter Health care event when test ordered Alternate names Context Definition The healthcare event (e.g. a patient and healthcare provider interaction) which this DiagnosticReport is about.
Links the request to the Encounter context.
This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).
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'))
- 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
- v2:PV1-19
- rim:inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
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| effective[x] | Σ | 0..1 | | There are no (further) constraints on this element Element IdDiagnosticReport.effective[x] Clinically relevant time/time-period for report Alternate names Observation time, Effective Time, Occurrence Definition The time or time-period the observed values are related to. When the subject of the report is a patient, this is usually either the time of the procedure or of specimen collection(s), but very often the source of the date/time is not known, only the date/time itself.
Need to know where in the patient history to file/present this report.
If the diagnostic procedure was performed on the patient, this is the time it was performed. If there are specimens, the diagnostically relevant time can be derived from the specimen collection times, but the specimen information is not always available, and the exact relationship between the specimens and the diagnostically relevant time is not always automatic.
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- workflow:Event.occurrence[x]
- w5:FiveWs.done[x]
- v2:OBR-7
- rim:effectiveTime
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| effectiveDateTime | | | dateTime | There are no (further) constraints on this element Data Type dateTime |
| issued | S Σ | 0..1 | instant | Element IdShort description DateTime this version was made Alternate names Date published, Date Issued, Date Verified, Datum des Berichtes Definition The date and time that this version of the report was made available to providers, typically after the report was reviewed and verified.
Clinicians need to be able to check the date that the report was released.
May be different from the update time of the resource itself, because that is the status of the record (potentially a secondary copy), not the actual release time of the report.
instant Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- w5:FiveWs.recorded
- v2:OBR-22
- rim:participation[typeCode=VRF or AUT].time
- MII-KDS:mide-dataelement-1452
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| performer | S Σ I | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam) | Element IdDiagnosticReport.performer Responsible Diagnostic Service Alternate names Laboratory, Service, Practitioner, Department, Company, Authorized by, Director, Labor / Institution/ Ansprechpartner Definition The diagnostic service that is responsible for issuing the report.
Need to know whom to contact if there are queries about the results. Also may need to track the source of reports for secondary data analysis.
This is not necessarily the source of the atomic data items or the entity that interpreted the results. It is the entity that takes responsibility for the clinical report.
Reference(Practitioner | PractitionerRole | Organization | CareTeam) 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'))
- 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
- v2:PRT-8 (where this PRT-4-Participation = "PO")
- rim:.participation[typeCode=PRF]
- MII-KDS:mide-dataelement-1453
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| resultsInterpreter | S Σ I | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam) | Element IdDiagnosticReport.resultsInterpreter Primary result interpreter Alternate names Analyzed by, Reported by, Labor / Institution/ Ansprechpartner Definition The practitioner or organization that is responsible for the report's conclusions and interpretations.
Need to know whom to contact if there are queries about the results. Also may need to track the source of reports for secondary data analysis.
Might not be the same entity that takes responsibility for the clinical report.
Reference(Practitioner | PractitionerRole | Organization | CareTeam) 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'))
- 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
- v2:OBR-32, PRT-8 (where this PRT-4-Participation = "PI")
- rim:.participation[typeCode=PRF]
- MII-KDS:mide-dataelement-1453
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| specimen | S I | 0..* | Reference(Specimen) | There are no (further) constraints on this element Element IdDiagnosticReport.specimen Specimens this report is based on Definition Details about the specimens on which this diagnostic report is based.
Need to be able to report information about the collected specimens on which the report is based.
If the specimen is sufficiently specified with a code in the test result name, then this additional data may be redundant. If there are multiple specimens, these may be represented per observation or group.
Reference(Specimen) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:SPM
- rim:participation[typeCode=SBJ]
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| result | S I | 0..* | Reference(Observation) | There are no (further) constraints on this element Element IdShort description Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Observation) Sliced: Unordered, Open, by resolve()(Profile) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
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| overall | S I | 0..1 | Reference(MII PR MolGen Ergebnis Zusammenfassung) | Element IdDiagnosticReport.result:overall Assessment of overall results Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Ergebnis Zusammenfassung) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
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| diagnostic-implication | S I | 0..* | Reference(MII PR MolGen Diagnostische Implikation) | Element IdDiagnosticReport.result:diagnostic-implication Diagnostic Implication Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Diagnostische Implikation) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
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| therapeutic-implication | S I | 0..* | Reference(MII PR MolGen Therapeutische Implikation) | Element IdDiagnosticReport.result:therapeutic-implication Therapeutic Implication Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Therapeutische Implikation) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| variant | S I | 0..* | Reference(MII PR MolGen Variante) | Element IdDiagnosticReport.result:variant Variant Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Variante) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| sequence-phase-relation | S I | 0..* | Reference(Sequence Phase Relationship) | There are no (further) constraints on this element Element IdDiagnosticReport.result:sequence-phase-relation Sequence Phase Relationship Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Sequence Phase Relationship) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| region-studied | S I | 0..* | Reference(MII PR MolGen Untersuchte Region) | Element IdDiagnosticReport.result:region-studied Region Studied Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Untersuchte Region) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| genotype | S I | 0..* | Reference(MII PR MolGen Genotyp) | Element IdDiagnosticReport.result:genotype Genotype Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Genotyp) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| haplotype | S I | 0..* | Reference(Haplotype) | There are no (further) constraints on this element Element IdDiagnosticReport.result:haplotype Haplotype Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Haplotype) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| tumor-mutation-burden | S I | 0..* | Reference(MII PR MolGen Mutationslast) | Element IdDiagnosticReport.result:tumor-mutation-burden Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Mutationslast) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| microsatellite-instability | S I | 0..* | Reference(MII PR MolGen Mikrosatelliteninstabilität) | Element IdDiagnosticReport.result:microsatellite-instability Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Mikrosatelliteninstabilität) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| imagingStudy | I | 0..* | Reference(ImagingStudy) | There are no (further) constraints on this element Element IdDiagnosticReport.imagingStudy Reference to full details of imaging associated with the diagnostic report Definition One or more links to full details of any imaging performed during the diagnostic investigation. Typically, this is imaging performed by DICOM enabled modalities, but this is not required. A fully enabled PACS viewer can use this information to provide views of the source images.
ImagingStudy and the image element are somewhat overlapping - typically, the list of image references in the image element will also be found in one of the imaging study resources. However, each caters to different types of displays for different types of purposes. Neither, either, or both may be provided.
Reference(ImagingStudy) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- rim:outboundRelationship[typeCode=COMP].target[classsCode=DGIMG, moodCode=EVN]
|
| media | S Σ | 0..* | BackboneElement | Element IdShort description Key images associated with this report Alternate names DICOM, Slides, Scans Definition A list of key images associated with this report. The images are generally created during the diagnostic process, and may be directly of the patient, or of treated specimens (i.e. slides of interest).
Many diagnostic services include images in the report as part of their service.
BackboneElement Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:OBX?
- rim:outboundRelationship[typeCode=COMP].target
- MII-KDS:mide-dataelement-1698
- MII-KDS:mide-dataelement-1447
|
| link | Σ I | 1..1 | Reference(Media) | There are no (further) constraints on this element Element IdDiagnosticReport.media.link Reference to the image source Definition Reference to the image source.
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.
Reference(Media) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- rim:.value.reference
|
| conclusion | S | 0..1 | string | There are no (further) constraints on this element Element IdDiagnosticReport.conclusion Clinical conclusion (interpretation) of test results Alternate names Report Definition Concise and clinically contextualized summary conclusion (interpretation/impression) of the diagnostic report.
Need to be able to provide a conclusion that is not lost among the basic result data.
Note that FHIR strings SHALL NOT exceed 1MB in size
string Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:OBX
- rim:inboundRelationship[typeCode="SPRT"].source[classCode=OBS, moodCode=EVN, code=LOINC:48767-8].value (type=ST)
|
| conclusionCode | S | 0..* | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.conclusionCode Codes for the clinical conclusion of test results Definition One or more codes that represent the summary conclusion (interpretation/impression) of the diagnostic report.
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.
CodeableConcept Binding Diagnosis codes provided as adjuncts to the report. SNOMEDCTClinicalFindings (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- v2:OBX
- rim:inboundRelationship[typeCode=SPRT].source[classCode=OBS, moodCode=EVN, code=LOINC:54531-9].value (type=CD)
|
| presentedForm | I | 0..* | Attachment | There are no (further) constraints on this element Element IdDiagnosticReport.presentedForm Entire report as issued Definition Rich text representation of the entire result as issued by the diagnostic service. Multiple formats are allowed but they SHALL be semantically equivalent.
Gives laboratory the ability to provide its own fully formatted report for clinical fidelity.
"application/pdf" is recommended as the most reliable and interoperable in this context.
Attachment Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count()) - att-1:If the Attachment has data, it SHALL have a contentType
data.empty() or contentType.exists()
- rim:n/a
- v2:ED/RP
- rim:ED
- v2:OBX
- rim:text (type=ED)
|
Snapshot
| DiagnosticReport | I | | DiagnosticReport | Element IdShort description A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports Alternate names Report, Test, Result, Results, Labs, Laboratory Definition The findings and interpretation of diagnostic tests performed on patients, groups of patients, devices, and locations, and/or specimens derived from these. The report includes clinical context such as requesting and provider information, and some mix of atomic results, images, textual and coded interpretations, and formatted representation of diagnostic reports.
This is intended to capture a single report and is not suitable for use in displaying summary information that covers multiple reports. For example, this resource has not been designed for laboratory cumulative reporting formats nor detailed structured reports for sequencing.
DiagnosticReport 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()
- rim:Entity. Role, or Act
- workflow:Event
- v2:ORU -> OBR
- rim:Observation[classCode=OBS, moodCode=EVN]
- MII-KDS:mide-dataelement-1371
|
| extension | I | 0..* | Extension | There are no (further) constraints on this element Element IdDiagnosticReport.extension 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 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.
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.
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()
|
| genomics-artifact | S I | 0..* | Extension(RelatedArtifact) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-artifact Genomics Artifact Alternate names extensions, user content Definition Captures citations, evidence and other supporting documentation for the observation or report.
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.
Extension(RelatedArtifact) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact 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()
|
| genomics-file | S I | 0..* | Extension(Reference(Genomics DocumentReference)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-file Genomics File Alternate names extensions, user content Definition Used to transmit the contents of or links to files that were produced as part of the testing process. Examples are VCF, BAM, CRAM, and other similar files.
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.
Extension(Reference(Genomics DocumentReference)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file 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()
|
| recommended-action | S I | 0..* | Extension(Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme)) | Element IdDiagnosticReport.extension:recommended-action MII EX MolGen Empfohlene Maßnahme Alternate names extensions, user content Definition Die Extension verweist auf eine vorgeschlagene Maßnahme, die auf der Grundlage der Ergebnisse des Befundberichts empfohlen wird.
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.
Extension(Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme)) Extension URL https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme 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()
|
| genomics-risk-assessment | S I | 0..* | Extension(Reference(RiskAssessment)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:genomics-risk-assessment Genomics Risk Assessment Alternate names extensions, user content Definition RiskAssessment delivered as part of a genomics report or observation
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.
Extension(Reference(RiskAssessment)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment 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()
|
| coded-note | S I | 0..* | Extension(Coded Annotation) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:coded-note Comments about the report that also contain a coded type Alternate names extensions, user content Definition Adds codified notes to a report to capture additional content
Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.
May include general statements about the report, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation.
The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of results or conclusion or conclusionCode.
One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.
Extension(Coded Annotation) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note 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()
|
| supporting-info | S I | 0..* | Extension(Reference(Resource)) | There are no (further) constraints on this element Element IdDiagnosticReport.extension:supporting-info Other information that may be relevant to this event. Alternate names extensions, user content Definition Other resources from the patient record that may be relevant to the event. The information from these resources was either used to create the instance or is provided to help with its interpretation. This extension should not be used if more specific inline elements or extensions are available. For example, use Observation.hasMember instead of supportingInformation for representing the members of an Observation panel.
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.
Extension(Reference(Resource)) Extension URL http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo 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()
|
| identifier | Σ | 0..* | Identifier | There are no (further) constraints on this element Element IdDiagnosticReport.identifier Business identifier for report Alternate names ReportID, Filler ID, Placer ID Definition Identifiers assigned to this report by the performer or other systems.
Need to know what identifier to use when making queries about this report from the source laboratory, and for linking to the report outside FHIR context.
Usually assigned by the Information System of the diagnostic service provider (filler id).
Identifier Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- 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
- v2:OBR-51/ for globally unique filler ID - OBR-3 , For non-globally unique filler-id the flller/placer number must be combined with the universal service Id - OBR-2(if present)+OBR-3+OBR-4
- rim:id
|
| basedOn | I | 0..* | Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | There are no (further) constraints on this element Element IdShort description What was requested Alternate names Request Definition Details concerning a service requested.
This allows tracing of authorization for the report and tracking whether proposals/recommendations were acted upon.
Note: Usually there is one test request for each result, however in some circumstances multiple test requests may be represented using a single test result resource. Note that there are also cases where one request leads to multiple reports.
Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- workflow:Event.basedOn
- v2:ORC? OBR-2/3?
- rim:outboundRelationship[typeCode=FLFS].target
|
| status | S Σ ?! | 1..1 | codeBinding | Element IdShort description registered | partial | preliminary | final + Alternate names Berichtstatus Definition The status of the diagnostic report.
Diagnostic services routinely issue provisional/incomplete reports, and sometimes withdraw previously released reports.
Note that FHIR strings SHALL NOT exceed 1MB in size
code Binding The status of the diagnostic report. DiagnosticReportStatus (required)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- workflow:Event.status
- w5:FiveWs.status
- v2:OBR-25 (not 1:1 mapping)
- rim:statusCode Note: final and amended are distinguished by whether observation is the subject of a ControlAct event of type "revise"
- MII-KDS:mide-dataelement-1448
|
| category | Σ | 1..* | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.category Service category Alternate names Department, Sub-department, Service, Discipline Definition A code that classifies the clinical discipline, department or diagnostic service that created the report (e.g. cardiology, biochemistry, hematology, MRI). This is used for searching, sorting and display purposes.
Multiple categories are allowed using various categorization schemes. The level of granularity is defined by the category concepts in the value set. More fine-grained filtering can be performed using the metadata and/or terminology hierarchy in DiagnosticReport.code.
CodeableConcept Sliced: Unordered, Open, by coding(Pattern) Binding Codes for diagnostic service sections. DiagnosticServiceSectionCodes (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- w5:FiveWs.class
- v2:OBR-24
- rim:inboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
|
| Genetics | Σ | 1..1 | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics Service category Alternate names Department, Sub-department, Service, Discipline Definition A code that classifies the clinical discipline, department or diagnostic service that created the report (e.g. cardiology, biochemistry, hematology, MRI). This is used for searching, sorting and display purposes.
Multiple categories are allowed using various categorization schemes. The level of granularity is defined by the category concepts in the value set. More fine-grained filtering can be performed using the metadata and/or terminology hierarchy in DiagnosticReport.code.
CodeableConcept Binding Codes for diagnostic service sections. DiagnosticServiceSectionCodes (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- w5:FiveWs.class
- v2:OBR-24
- rim:inboundRelationship[typeCode=COMP].source[classCode=LIST, moodCode=EVN, code < LabService].code
|
| coding | Σ | 1..* | CodingPattern | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics.coding Code defined by a terminology system Definition A reference to a code defined by a terminology system.
Allows for alternative encodings within a code system, and translations to other code systems.
Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.
Coding Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
} Mappings- rim:n/a
- v2:CE/CNE/CWE subset one of the sets of component 1-3 or 4-6
- rim:CV
- orim:fhir:Coding rdfs:subClassOf dt:CDCoding
- v2:C*E.1-8, C*E.10-22
- rim:union(., ./translation)
- orim:fhir:CodeableConcept.coding rdfs:subPropertyOf dt:CD.coding
|
| text | Σ | 0..1 | string | There are no (further) constraints on this element Element IdDiagnosticReport.category:Genetics.text Plain text representation of the concept Definition A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.
The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.
Very often the text is the same as a displayName of one of the codings.
string Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:C*E.9. But note many systems use C*E.2 for this
- rim:./originalText[mediaType/code="text/plain"]/data
- orim:fhir:CodeableConcept.text rdfs:subPropertyOf dt:CD.originalText
|
| code | Σ | 1..1 | CodeableConceptBinding | There are no (further) constraints on this element Element IdShort description Name/Code for this diagnostic report Alternate names Type Definition A code or name that describes this diagnostic report.
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.
CodeableConcept Binding Codes that describe Diagnostic Reports. LOINCDiagnosticReportCodes (preferred)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- workflow:Event.code
- w5:FiveWs.what[x]
- v2:OBR-4 (HL7 v2 doesn't provide an easy way to indicate both the ordered test and the performed panel)
- rim:code
|
| subject | S Σ I | 1..1 | MII-Reference(Patient | Group) | Element IdShort description A reference from one resource to another Alternate names Patient Definition A reference from one resource to another.
SHALL know the subject context.
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.
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()
- 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]
- v2:PID-3 (no HL7 v2 mapping for Group or Device)
- rim:participation[typeCode=SBJ]
- w5:FiveWs.subject
|
| encounter | S Σ I | 0..1 | Reference(Encounter) | There are no (further) constraints on this element Element IdDiagnosticReport.encounter Health care event when test ordered Alternate names Context Definition The healthcare event (e.g. a patient and healthcare provider interaction) which this DiagnosticReport is about.
Links the request to the Encounter context.
This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).
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'))
- 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
- v2:PV1-19
- rim:inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
|
| effective[x] | Σ | 0..1 | | There are no (further) constraints on this element Element IdDiagnosticReport.effective[x] Clinically relevant time/time-period for report Alternate names Observation time, Effective Time, Occurrence Definition The time or time-period the observed values are related to. When the subject of the report is a patient, this is usually either the time of the procedure or of specimen collection(s), but very often the source of the date/time is not known, only the date/time itself.
Need to know where in the patient history to file/present this report.
If the diagnostic procedure was performed on the patient, this is the time it was performed. If there are specimens, the diagnostically relevant time can be derived from the specimen collection times, but the specimen information is not always available, and the exact relationship between the specimens and the diagnostically relevant time is not always automatic.
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- workflow:Event.occurrence[x]
- w5:FiveWs.done[x]
- v2:OBR-7
- rim:effectiveTime
|
| effectiveDateTime | | | dateTime | There are no (further) constraints on this element Data Type dateTime |
| issued | S Σ | 0..1 | instant | Element IdShort description DateTime this version was made Alternate names Date published, Date Issued, Date Verified, Datum des Berichtes Definition The date and time that this version of the report was made available to providers, typically after the report was reviewed and verified.
Clinicians need to be able to check the date that the report was released.
May be different from the update time of the resource itself, because that is the status of the record (potentially a secondary copy), not the actual release time of the report.
instant Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- w5:FiveWs.recorded
- v2:OBR-22
- rim:participation[typeCode=VRF or AUT].time
- MII-KDS:mide-dataelement-1452
|
| performer | S Σ I | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam) | Element IdDiagnosticReport.performer Responsible Diagnostic Service Alternate names Laboratory, Service, Practitioner, Department, Company, Authorized by, Director, Labor / Institution/ Ansprechpartner Definition The diagnostic service that is responsible for issuing the report.
Need to know whom to contact if there are queries about the results. Also may need to track the source of reports for secondary data analysis.
This is not necessarily the source of the atomic data items or the entity that interpreted the results. It is the entity that takes responsibility for the clinical report.
Reference(Practitioner | PractitionerRole | Organization | CareTeam) 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'))
- 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
- v2:PRT-8 (where this PRT-4-Participation = "PO")
- rim:.participation[typeCode=PRF]
- MII-KDS:mide-dataelement-1453
|
| resultsInterpreter | S Σ I | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam) | Element IdDiagnosticReport.resultsInterpreter Primary result interpreter Alternate names Analyzed by, Reported by, Labor / Institution/ Ansprechpartner Definition The practitioner or organization that is responsible for the report's conclusions and interpretations.
Need to know whom to contact if there are queries about the results. Also may need to track the source of reports for secondary data analysis.
Might not be the same entity that takes responsibility for the clinical report.
Reference(Practitioner | PractitionerRole | Organization | CareTeam) 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'))
- 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
- v2:OBR-32, PRT-8 (where this PRT-4-Participation = "PI")
- rim:.participation[typeCode=PRF]
- MII-KDS:mide-dataelement-1453
|
| specimen | S I | 0..* | Reference(Specimen) | There are no (further) constraints on this element Element IdDiagnosticReport.specimen Specimens this report is based on Definition Details about the specimens on which this diagnostic report is based.
Need to be able to report information about the collected specimens on which the report is based.
If the specimen is sufficiently specified with a code in the test result name, then this additional data may be redundant. If there are multiple specimens, these may be represented per observation or group.
Reference(Specimen) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:SPM
- rim:participation[typeCode=SBJ]
|
| result | S I | 0..* | Reference(Observation) | There are no (further) constraints on this element Element IdShort description Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Observation) Sliced: Unordered, Open, by resolve()(Profile) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| overall | S I | 0..1 | Reference(MII PR MolGen Ergebnis Zusammenfassung) | Element IdDiagnosticReport.result:overall Assessment of overall results Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Ergebnis Zusammenfassung) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| diagnostic-implication | S I | 0..* | Reference(MII PR MolGen Diagnostische Implikation) | Element IdDiagnosticReport.result:diagnostic-implication Diagnostic Implication Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Diagnostische Implikation) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| therapeutic-implication | S I | 0..* | Reference(MII PR MolGen Therapeutische Implikation) | Element IdDiagnosticReport.result:therapeutic-implication Therapeutic Implication Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Therapeutische Implikation) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| variant | S I | 0..* | Reference(MII PR MolGen Variante) | Element IdDiagnosticReport.result:variant Variant Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Variante) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| sequence-phase-relation | S I | 0..* | Reference(Sequence Phase Relationship) | There are no (further) constraints on this element Element IdDiagnosticReport.result:sequence-phase-relation Sequence Phase Relationship Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Sequence Phase Relationship) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| region-studied | S I | 0..* | Reference(MII PR MolGen Untersuchte Region) | Element IdDiagnosticReport.result:region-studied Region Studied Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Untersuchte Region) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| genotype | S I | 0..* | Reference(MII PR MolGen Genotyp) | Element IdDiagnosticReport.result:genotype Genotype Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Genotyp) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| haplotype | S I | 0..* | Reference(Haplotype) | There are no (further) constraints on this element Element IdDiagnosticReport.result:haplotype Haplotype Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(Haplotype) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| tumor-mutation-burden | S I | 0..* | Reference(MII PR MolGen Mutationslast) | Element IdDiagnosticReport.result:tumor-mutation-burden Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Mutationslast) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| microsatellite-instability | S I | 0..* | Reference(MII PR MolGen Mikrosatelliteninstabilität) | Element IdDiagnosticReport.result:microsatellite-instability Observations Alternate names Data, Atomic Value, Result, Atomic result, Data, Test, Analyte, Battery, Organizer Definition Requirements Need to support individual results, or groups of results, where the result grouping is arbitrary, but meaningful.
Observations can contain observations.
Reference(MII PR MolGen Mikrosatelliteninstabilität) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- v2:OBXs
- rim:outboundRelationship[typeCode=COMP].target
|
| imagingStudy | I | 0..* | Reference(ImagingStudy) | There are no (further) constraints on this element Element IdDiagnosticReport.imagingStudy Reference to full details of imaging associated with the diagnostic report Definition One or more links to full details of any imaging performed during the diagnostic investigation. Typically, this is imaging performed by DICOM enabled modalities, but this is not required. A fully enabled PACS viewer can use this information to provide views of the source images.
ImagingStudy and the image element are somewhat overlapping - typically, the list of image references in the image element will also be found in one of the imaging study resources. However, each caters to different types of displays for different types of purposes. Neither, either, or both may be provided.
Reference(ImagingStudy) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- rim:outboundRelationship[typeCode=COMP].target[classsCode=DGIMG, moodCode=EVN]
|
| media | S Σ | 0..* | BackboneElement | Element IdShort description Key images associated with this report Alternate names DICOM, Slides, Scans Definition A list of key images associated with this report. The images are generally created during the diagnostic process, and may be directly of the patient, or of treated specimens (i.e. slides of interest).
Many diagnostic services include images in the report as part of their service.
BackboneElement Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:OBX?
- rim:outboundRelationship[typeCode=COMP].target
- MII-KDS:mide-dataelement-1698
- MII-KDS:mide-dataelement-1447
|
| link | Σ I | 1..1 | Reference(Media) | There are no (further) constraints on this element Element IdDiagnosticReport.media.link Reference to the image source Definition Reference to the image source.
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.
Reference(Media) 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'))
- rim:n/a
- rim:The target of a resource reference is a RIM entry point (Act, Role, or Entity)
- rim:.value.reference
|
| conclusion | S | 0..1 | string | There are no (further) constraints on this element Element IdDiagnosticReport.conclusion Clinical conclusion (interpretation) of test results Alternate names Report Definition Concise and clinically contextualized summary conclusion (interpretation/impression) of the diagnostic report.
Need to be able to provide a conclusion that is not lost among the basic result data.
Note that FHIR strings SHALL NOT exceed 1MB in size
string Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:OBX
- rim:inboundRelationship[typeCode="SPRT"].source[classCode=OBS, moodCode=EVN, code=LOINC:48767-8].value (type=ST)
|
| conclusionCode | S | 0..* | CodeableConcept | There are no (further) constraints on this element Element IdDiagnosticReport.conclusionCode Codes for the clinical conclusion of test results Definition One or more codes that represent the summary conclusion (interpretation/impression) of the diagnostic report.
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.
CodeableConcept Binding Diagnosis codes provided as adjuncts to the report. SNOMEDCTClinicalFindings (example)Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- v2:CE/CNE/CWE
- rim:CD
- orim:fhir:CodeableConcept rdfs:subClassOf dt:CD
- v2:OBX
- rim:inboundRelationship[typeCode=SPRT].source[classCode=OBS, moodCode=EVN, code=LOINC:54531-9].value (type=CD)
|
| presentedForm | I | 0..* | Attachment | There are no (further) constraints on this element Element IdDiagnosticReport.presentedForm Entire report as issued Definition Rich text representation of the entire result as issued by the diagnostic service. Multiple formats are allowed but they SHALL be semantically equivalent.
Gives laboratory the ability to provide its own fully formatted report for clinical fidelity.
"application/pdf" is recommended as the most reliable and interoperable in this context.
Attachment Constraints- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count()) - att-1:If the Attachment has data, it SHALL have a contentType
data.empty() or contentType.exists()
- rim:n/a
- v2:ED/RP
- rim:ED
- v2:OBX
- rim:text (type=ED)
|
Extensions
Genomics Artifact
Snapshot
| Extension | I | | Extension | Element IdShort description Genomics Artifact Definition Captures citations, evidence and other supporting documentation for the observation or report.
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()
|
| extension | I | 0..0 | Extension | There are no (further) constraints on this element Element IdShort 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.
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.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact Mappings |
| value[x] | | 0..1 | | There are no (further) constraints on this element Element IdShort description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
|
| valueRelatedArtifact | | | RelatedArtifact | Data Type RelatedArtifact |
Genomics File
Snapshot
| Extension | I | | Extension | Element IdShort description Genomics File Definition Used to transmit the contents of or links to files that were produced as part of the testing process. Examples are VCF, BAM, CRAM, and other similar files.
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()
|
| extension | I | 0..0 | Extension | There are no (further) constraints on this element Element IdShort 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.
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.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file Mappings |
| value[x] | | 0..1 | | There are no (further) constraints on this element Element IdShort description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
|
| valueReference | | | Reference(Genomics DocumentReference) | Data Type Reference(Genomics DocumentReference) |
Empfohlene Maßnahme
Snapshot
| Extension | I | | Extension | Element IdShort description MII EX MolGen Empfohlene Maßnahme Definition Die Extension verweist auf eine vorgeschlagene Maßnahme, die auf der Grundlage der Ergebnisse des Befundberichts empfohlen wird.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme Mappings |
| value[x] | | 0..1 | | There are no (further) constraints on this element Element IdShort description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
|
| valueReference | | | Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) | Data Type Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) |
Genomics Risk Assessment
Snapshot
| Extension | I | | Extension | Element IdShort description Genomics Risk Assessment Definition RiskAssessment delivered as part of a genomics report or observation
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()
|
| extension | I | 0..0 | Extension | There are no (further) constraints on this element Element IdShort 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.
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.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment Mappings |
| value[x] | | 0..1 | | There are no (further) constraints on this element Element IdShort description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
|
| valueReference | | | Reference(RiskAssessment) | Data Type Reference(RiskAssessment) |
Coded Note
Snapshot
| Extension | I | | Extension | Element IdShort description Genomic Report Note Definition Adds codified notes to a report to capture additional content
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()
|
| extension | I | 0..0 | Extension | There are no (further) constraints on this element Element IdShort 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.
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.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note Mappings |
| value[x] | | 0..1 | | Element IdShort description Text node with attribution Definition A text note which also contains information about who made the statement and when.
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:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
- rim:n/a
- rim:N/A
- v2:N/A
- rim:Act
|
| valueAnnotation | | | Coded Annotation | Data Type Coded Annotation |
Supporting Info
Snapshot
| Extension | I | | Extension | Element IdShort description Other information that may be relevant to this event. Definition Other resources from the patient record that may be relevant to the event. The information from these resources was either used to create the instance or is provided to help with its interpretation. This extension should not be used if more specific inline elements or extensions are available. For example, use Observation.hasMember instead of supportingInformation for representing the members of an Observation panel.
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()
|
| extension | I | 0..0 | Extension | There are no (further) constraints on this element Element IdShort 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.
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.
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()
|
| url | | 1..1 | System.StringFixed Value | Element IdShort description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL.
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.
System.String Fixed Value
http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo Mappings |
| value[x] | | 1..1 | | There are no (further) constraints on this element Element IdShort description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
- ele-1:All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
|
| valueReference | | | Reference(Resource) | Data Type Reference(Resource) |
| FHIR-Element |
Logischer Datensatz |
| DiagnosticReport.status |
Weiteres.Berichtstatus |
| DiagnosticReport.issued |
Weiteres.Datum des Berichts |
| DiagnosticReport.performer |
Weiteres.Labor / Institution/ Ansprechpartner |
| DiagnosticReport.resultsInterpreter |
Weiteres.Labor / Institution/ Ansprechpartner |
| DiagnosticReport.media |
Ergebnisse.Daten |
| DiagnosticReport.media |
Weiteres.Anhänge |
| DiagnosticReport.subject |
Probeninformationen.Patient |
| DiagnosticReport.specimen |
Probeninformationen.Probe |
| DiagnosticReport.identifier |
Weiteres.Bericht ID |
| DiagnosticReport.extension:supporting-info(ChargeItem) |
Anforderung.Einheitlicher Bewertungsmaßstab |
| DiagnosticReport.supporting-info |
Methoden.Relevante Parameter |
Suchparameter
Folgende Suchparameter sind für das Modul Pathologie-Befund relevant, auch in Kombination:
Der Suchparameter _id MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?_id=example-mii-molgen-molekulargenetischer-befundbericht-1
Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".
Der Suchparameter "_profile" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht
Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".
Der Suchparameter "code" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?code=http://loinc.org|51969-4
Anwendungshinweise: Weitere Informationen zur Suche nach "code" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Der Suchparameter "subject" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?subject=Patient/example-mii-molgen-patient
Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "category" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?category=http://terminology.hl7.org/CodeSystem/v2-0074|GE
Anwendungshinweise: Weitere Informationen zur Suche nach "category" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Der Suchparameter "encounter" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?encounter=Encounter/12345
Anwendungshinweise: Weitere Informationen zur Suche nach "encounter" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "date" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?date=2022-07-13
Anwendungshinweise: Weitere Informationen zur Suche nach "date" finden sich in der FHIR-Basisspezifikation - Abschnitt "date".
Der Suchparameter "issued" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?issued=2022-07-13
Anwendungshinweise: Weitere Informationen zur Suche nach "issued" finden sich in der FHIR-Basisspezifikation - Abschnitt "date".
Der Suchparameter "performer" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?performer=Practioner/example-mii-molgen-practitioner-laboratory
Anwendungshinweise: Weitere Informationen zur Suche nach "performer" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "requestor" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?requestor=Practioner/example-mii-molgen-practitioner-physician
Anwendungshinweise: Weitere Informationen zur Suche nach "requestor" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "specimen" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?specimen=Specimen/example-mii-molgen-specimen
Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "status" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?status=final
Anwendungshinweise: Weitere Informationen zur Suche nach "status" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Der Suchparameter "result" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?result=Observation/example-mii-molgen-variante-1
Anwendungshinweise: Weitere Informationen zur Suche nach "result" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "media" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?media=Media/12345
Anwendungshinweise: Weitere Informationen zur Suche nach "media" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "conclusion" MUSS unterstützt werden:
Beispiele:
GET [base]/DiagnosticReport?conclusion=http://snomed.info/sct|830150003
Anwendungshinweise: Weitere Informationen zur Suche nach "conclusion" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Examples
Befundbericht-1 BRAF
{
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-molekulargenetischer-befundbericht-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
]
},
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/mii-exa-molgen-medikationsempfehlung-1"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/mii-exa-molgen-folgemassnahme-1"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
}
],
"status": "final",
"code": {
"coding": [
{
"code": "51969-4",
"system": "http://loinc.org",
"display": "Genetic analysis report"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-ergebnis-zusammenfassung-1"
},
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-1"
},
{
"reference": "Observation/mii-exa-molgen-therapeutische-implikation-1"
},
{
"reference": "Observation/mii-exa-molgen-variante-1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-1"
},
{
"reference": "Observation/mii-exa-molgen-genotyp-1"
},
{
"reference": "Observation/mii-exa-molgen-mutationslast-1"
},
{
"reference": "Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"
}
],
"conclusion": "BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen."
}
Befundbericht-2 NIPBL
{
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-molekulargenetischer-befundbericht-2",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
]
},
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. PMID: 15318302; PMCID: PMC1182048.",
"url": "https://pubmed.ncbi.nlm.nih.gov/15318302/"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18. PMID: 19763162; PMCID: PMC2730539.",
"url": "https://pubmed.ncbi.nlm.nih.gov/19763162/"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. PMID: 23505322.",
"url": "https://pubmed.ncbi.nlm.nih.gov/23505322/"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837; PMCID: PMC7136165.",
"url": "https://pubmed.ncbi.nlm.nih.gov/29995837/"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note",
"valueAnnotation": {
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/annotation-code",
"valueCodeableConcept": {
"coding": [
{
"code": "116148004",
"system": "http://snomed.info/sct",
"display": "Molecular genetics procedure (procedure)"
}
]
}
}
],
"text": "Gen-Panel zusammengestellt nach den aktuellen Empfehlungen des Deutschen Konsortiums für erblichen Brust- und Eierstockkrebs sowie der ClinGen Breast/Ovarian Cancer Working Group (Lee et al. 2019, PMID: 30504931). Nach DNA-Extraktion wurden alle kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8) angereichert (Custom Panel V02, IDT) und auf einem Illumina NextSeq 500-, NextSeq 550- oder NovaSeq 6000-Sequencer sequenziert. Zur Verifizierung der DNA-Probe wurden 14 SNPs (Single Nucleotide Polymorphism) mittels kompetitiver allelspezifischer PCR unter Verwendung fluoreszenzmarkierter Primer amplifiziert (StepOnePlus System, ThermoFisher Scientific) und analysiert (StepOnePlus software für Genotyping Experiments) und die Ergebnisse mit den Daten der NGS-Analyse verglichen (megSAP). Der Abgleich der ermittelten DNA-Sequenz erfolgte mit den in den Gendatenbanken niedergelegten Sequenzen: BRCA1 - NCBI Reference Sequence NM_007294.2, BRCA2 - ensembl ENST00000380152, ATM - NCBI Reference Sequence NM_000051.3, BARD1 - ENST00000260947.4, BRIP1 - NCBI Reference Sequence NM_032043.2, CDH1 - ensembl ENST00000261769, CHEK2 - NCBI Reference Sequence NM_007194.3, PALB2 - ensembl ENST00000261584, PTEN - NCBI Reference Sequence NM_000214.4, RAD51C - ensembl ENST00000337432, RAD51D - ensembl ENST00000345365, STK11 - ensembl ENST00000326873.7 und TP53 - ensembl ENST00000269305. Es wurden außerdem Varianten nachgewiesen, die nach heutigem Wissensstand als Normvarianten ohne pathologische Bedeutung zu werten sind."
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "ChargeItem/mii-exa-molgen-chargeitem-ebm-21"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "ChargeItem/mii-exa-molgen-chargeitem-ebm-22"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "ChargeItem/mii-exa-molgen-chargeitem-ebm-23"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "ChargeItem/mii-exa-molgen-chargeitem-ebm-24"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "Condition/mii-exa-molgen-bundle-befund-2-nipbl-condition-lab"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-2"
}
],
"status": "final",
"code": {
"coding": [
{
"code": "51969-4",
"system": "http://loinc.org",
"display": "Genetic analysis report"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-2"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-2"
},
{
"reference": "Observation/mii-exa-molgen-variante-2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-nipbl"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-hdac8"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-rad21"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-smc1a"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-smc3"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-2-tp63"
}
],
"conclusion": "Nachweis der pathogenen Variante c.2207del p.(Pro736Glnfs*58) (heterozygot) im NIPBL-Gen."
}
Die in Befundbericht-2 abzurechnenden EBM-Ziffern werden separat in ChargeItem Ressourcen erfasst.
{
"resourceType": "ChargeItem",
"id": "mii-exa-molgen-chargeitem-ebm-21",
"meta": {
"profile": [
"http://fhir.de/StructureDefinition/chargeitem-de-ebm"
]
},
"code": {
"coding": [
{
"system": "https://fhir.kbv.de/NamingSystem/KBV_NS_Base_EBM",
"code": "11513",
"display": "Postnatale Mutationssuche zum Nachweis oder Ausschluss einer krankheitsrelevanten oder krankheitsauslösenden konstitutionellen genomischen Mutation"
}
]
},
"status": "billable",
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"quantity": {
"value": 72
}
}
Befundbericht-3 Risk-Panel
{
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-molekulargenetischer-befundbericht-trurisk-panel",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
]
},
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. PMID: 18951446; PMCID: PMC3075918.",
"url": "https://doi.org/10.1002/humu.20880"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK. Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer. Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19. PMID: 35702495; PMCID: PMC9149395.",
"url": "https://doi.org/10.1159%2F000516376"
}
},
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme",
"valueReference": {
"reference": "Task/mii-exa-molgen-folgemassnahme-brca1"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment",
"valueReference": {
"reference": "RiskAssessment/mii-exa-molgen-prs-brca1"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
}
],
"status": "final",
"code": {
"coding": [
{
"code": "51969-4",
"system": "http://loinc.org",
"display": "Genetic analysis report"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-brca1"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-ergebnis-zusammenfassung-trurisk-panel"
},
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
},
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-brca1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-ATM"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-BRCA1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-BARD1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-BRCA2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-BRIP1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-CDH1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-CHECK2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-MLH1"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-MSH2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-MSH6"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-PALB2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-PMS2"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-PTEN"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-RAD51C"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-RAD51D"
},
{
"reference": "Observation/mii-exa-molgen-untersuchte-region-true-risk-panel-v3-TP53"
}
],
"conclusion": "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt."
}