臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0

This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Resource Profile: 基因定序檢測報告-DiagnosticReport TWNGS

Official URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DiagnosticReport-twngs Version: 1.0.0
Active as of 2025-07-22 Computable Name: DiagnosticReportTWNGS

此基因定序檢測報告-DiagnosticReport TWNGSS Profile說明本IG如何進一步定義FHIR的DiagnosticReport Resource以呈現健保次世代基因定序檢測報告

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* DiagnosticReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... code Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... Slices for effective[x] Σ 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime SΣ 1..1 dateTime 費用年月
... performer Σ 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
DiagnosticReport.statusrequiredDiagnosticReportStatus
http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1
From the FHIR Standard
DiagnosticReport.codepreferredPattern Value: LOINC Code 51969-4("Genetic analysis report")
http://hl7.org/fhir/ValueSet/report-codes
From the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorDiagnosticReportIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorDiagnosticReportIf 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-4errorDiagnosticReportIf 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-5errorDiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceDiagnosticReportA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()

This structure is derived from DiagnosticReport

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport DiagnosticReport
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... basedOn S 1..* Reference(基因定序檢測申請項目-ServiceRequest TWNGS) 基因定序檢測申請項目
... code 1..1 CodeableConcept Name/Code for this diagnostic report
Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
... Slices for effective[x] 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Open by type:$this
.... effective[x]:effectiveDateTime S 1..1 dateTime 費用年月
... performer 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* DiagnosticReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn S 1..* Reference(基因定序檢測申請項目-ServiceRequest TWNGS) 基因定序檢測申請項目
... status ?!Σ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... category Σ 0..* CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
... code Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... encounter Σ 0..1 Reference(Encounter) Health care event when test ordered
... Slices for effective[x] Σ 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime SΣ 1..1 dateTime 費用年月
... issued Σ 0..1 instant DateTime this version was made
... performer Σ 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... resultsInterpreter Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Primary result interpreter
... specimen 0..* Reference(Specimen) Specimens this report is based on
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media Σ 0..* BackboneElement Key images associated with this report
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
DiagnosticReport.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
From the FHIR Standard
Additional Bindings Purpose
AllLanguages Max Binding
DiagnosticReport.statusrequiredDiagnosticReportStatus
http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1
From the FHIR Standard
DiagnosticReport.categoryexampleDiagnosticServiceSectionCodes
http://hl7.org/fhir/ValueSet/diagnostic-service-sections
From the FHIR Standard
DiagnosticReport.codepreferredPattern Value: LOINC Code 51969-4("Genetic analysis report")
http://hl7.org/fhir/ValueSet/report-codes
From the FHIR Standard
DiagnosticReport.conclusionCodeexampleSNOMEDCTClinicalFindings
http://hl7.org/fhir/ValueSet/clinical-findings
From the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorDiagnosticReportIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorDiagnosticReportIf 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-4errorDiagnosticReportIf 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-5errorDiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceDiagnosticReportA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* DiagnosticReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... code Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... Slices for effective[x] Σ 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime SΣ 1..1 dateTime 費用年月
... performer Σ 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
DiagnosticReport.statusrequiredDiagnosticReportStatus
http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1
From the FHIR Standard
DiagnosticReport.codepreferredPattern Value: LOINC Code 51969-4("Genetic analysis report")
http://hl7.org/fhir/ValueSet/report-codes
From the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorDiagnosticReportIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorDiagnosticReportIf 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-4errorDiagnosticReportIf 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-5errorDiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceDiagnosticReportA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()

Differential View

This structure is derived from DiagnosticReport

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport DiagnosticReport
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... basedOn S 1..* Reference(基因定序檢測申請項目-ServiceRequest TWNGS) 基因定序檢測申請項目
... code 1..1 CodeableConcept Name/Code for this diagnostic report
Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
... Slices for effective[x] 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Open by type:$this
.... effective[x]:effectiveDateTime S 1..1 dateTime 費用年月
... performer 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* DiagnosticReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 1..* Extension 疾病資訊
Slice: Unordered, Open by value:url
.... extension:condition S 1..1 Reference(基因定序檢測報告之疾病資訊-Condition TWNGS) Extension
URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn S 1..* Reference(基因定序檢測申請項目-ServiceRequest TWNGS) 基因定序檢測申請項目
... status ?!Σ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... category Σ 0..* CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
... code Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 1..1 string Representation defined by the system
Fixed Value: Genetic analysis report
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... encounter Σ 0..1 Reference(Encounter) Health care event when test ordered
... Slices for effective[x] Σ 1..1 dateTime Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime SΣ 1..1 dateTime 費用年月
... issued Σ 0..1 instant DateTime this version was made
... performer Σ 1..1 Reference(基因檢測機構-Organization Gene TWNGS) 基因檢測機構
... resultsInterpreter Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Primary result interpreter
... specimen 0..* Reference(Specimen) Specimens this report is based on
... result 1..* Reference(基因資訊-Observation TWNGS) 基因資訊
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media Σ 0..* BackboneElement Key images associated with this report
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
DiagnosticReport.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
From the FHIR Standard
Additional Bindings Purpose
AllLanguages Max Binding
DiagnosticReport.statusrequiredDiagnosticReportStatus
http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1
From the FHIR Standard
DiagnosticReport.categoryexampleDiagnosticServiceSectionCodes
http://hl7.org/fhir/ValueSet/diagnostic-service-sections
From the FHIR Standard
DiagnosticReport.codepreferredPattern Value: LOINC Code 51969-4("Genetic analysis report")
http://hl7.org/fhir/ValueSet/report-codes
From the FHIR Standard
DiagnosticReport.conclusionCodeexampleSNOMEDCTClinicalFindings
http://hl7.org/fhir/ValueSet/clinical-findings
From the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorDiagnosticReportIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorDiagnosticReportIf 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-4errorDiagnosticReportIf 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-5errorDiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceDiagnosticReportA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()

 

Other representations of profile: CSV, Excel, Schematron