臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build

臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: 短序列DNA變異資訊-Observation Variant TWNGS

Official URL: http://example.org/StructureDefinition/Observation-variant-twngs Version: 0.1.0
Draft as of 2026-01-13 Computable Name: ObservationVariantTWNGS

此Observation Variant TWNGS Profile說明本IG如何進一步定義FHIR的Observation Resource以呈現次世代基因定序檢測之短序列DNA變異資訊

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
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
.... coding Σ 1..1 Coding Code defined by a terminology system
..... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
... subject SΣ 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... effective[x] SΣ 1..1 dateTime [NGS基因檢測日期]
... specimen S 0..1 Reference(基因檢測檢體-Specimen TWNGS) 基因檢測檢體類型
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... derivedFrom SΣ 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component SΣ 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... component:transcriptDatabaseName SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
..... value[x] SΣ 1..1 string [轉錄本參考資料庫名稱]
.... component:transcriptDatabaseRelease SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
..... value[x] SΣ 1..1 string [轉錄本參考資料庫版本]
.... component:transcriptID SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
..... value[x] SΣ 1..1 string [轉錄本參考序列]
.... component:dnaChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
..... value[x] SΣ 1..1 string [DNA變異]。c.HGVS
.... component:variantGeneSymbol SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
..... value[x] SΣ 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
.... component:aminoAcidChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
..... value[x] SΣ 1..1 string [胺基酸變異]。p.HGVS
.... component:variantAllelicFrequency SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
..... value[x] SΣ 1..1 Quantity [基因變異比例]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit SΣ 1..1 string Unit representation
Required Pattern: %
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
Required Pattern: %
.... component:dnaChangeType SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
..... value[x] SΣ 1..1 CodeableConcept [DNA變異類型]
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
.... component:genomicRefSeqID SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
..... value[x] SΣ 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
.... component:genomicDnaChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
..... value[x] SΣ 1..1 string [基因組DNA變異]。g.HGVS
.... component:proteinRefId SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
..... value[x] SΣ 1..1 string [蛋白質參考序列編號]
.... component:aminoAcidChangeType SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
..... value[x] SΣ 1..1 CodeableConcept [胺基酸變異類型]
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
.... component:variantReadCount SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
..... value[x] SΣ 1..1 Quantity [變異測序讀數]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
.... component:variantTotalReadCount SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
..... value[x] SΣ 1..1 Quantity [變異區測序總讀數]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:genomicRefSeqID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:variantReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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-4 error Observation 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-5 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Observation

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation Observation
... code S 1..1 CodeableConcept Type of observation (code / type)
.... coding 1..1 Coding Code defined by a terminology system
..... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
... subject S 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... effective[x] S 1..1 dateTime [NGS基因檢測日期]
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... derivedFrom S 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component S 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:transcriptDatabaseName S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
..... value[x] S 1..1 string [轉錄本參考資料庫名稱]
.... component:transcriptDatabaseRelease S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
..... value[x] S 1..1 string [轉錄本參考資料庫版本]
.... component:transcriptID S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
..... value[x] S 1..1 string [轉錄本參考序列]
.... component:dnaChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
..... value[x] S 1..1 string [DNA變異]。c.HGVS
.... component:variantGeneSymbol S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
..... value[x] S 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
.... component:aminoAcidChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
..... value[x] S 1..1 string [胺基酸變異]。p.HGVS
.... component:variantAllelicFrequency S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
..... value[x] S 1..1 Quantity [基因變異比例]
...... value S 1..1 decimal Numerical value (with implicit precision)
...... unit S 1..1 string Unit representation
Required Pattern: %
...... system 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code 0..1 code Coded form of the unit
Required Pattern: %
.... component:dnaChangeType S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
..... value[x] S 1..1 CodeableConcept [DNA變異類型]
...... coding 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
.... component:genomicRefSeqID S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
..... value[x] S 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
.... component:genomicDnaChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
..... value[x] S 1..1 string [基因組DNA變異]。g.HGVS
.... component:proteinRefId S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
..... value[x] S 1..1 string [蛋白質參考序列編號]
.... component:aminoAcidChangeType S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
..... value[x] S 1..1 CodeableConcept [胺基酸變異類型]
...... coding 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
.... component:variantReadCount S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
..... value[x] S 1..1 Quantity [變異測序讀數]
...... value S 1..1 decimal Numerical value (with implicit precision)
.... component:variantTotalReadCount S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
..... value[x] S 1..1 Quantity [變異區測序總讀數]
...... value S 1..1 decimal Numerical value (with implicit precision)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... 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
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.
Additional BindingsPurpose
AllLanguages Max Binding
... 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
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
... code SΣ 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 1..1 Coding Code defined by a terminology system
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... version Σ 0..1 string Version of the system - if relevant
..... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
..... display Σ 0..1 string Representation defined by the system
..... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣ 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
... effective[x] SΣ 1..1 dateTime [NGS基因檢測日期]
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... value[x] ΣC 0..1 Actual result
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
... note 0..* Annotation Comments about the observation
... bodySite 0..1 CodeableConcept Observed body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
... method 0..1 CodeableConcept How it was done
Binding: ObservationMethods (example): Methods for simple observations.
... specimen S 0..1 Reference(基因檢測檢體-Specimen TWNGS) 基因檢測檢體類型
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... 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
.... low C 0..1 SimpleQuantity(4.0.1) Low Range, if relevant
.... high C 0..1 SimpleQuantity(4.0.1) High Range, if relevant
.... type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
.... appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
.... age 0..1 Range Applicable age range, if relevant
.... text 0..1 string Text based reference range in an observation
... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
... derivedFrom SΣ 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component SΣ 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:All Slices Content/Rules for all slices
..... 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
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptDatabaseName SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考資料庫名稱]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptDatabaseRelease SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考資料庫版本]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptID SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考序列]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:dnaChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [DNA變異]。c.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantGeneSymbol SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:aminoAcidChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [胺基酸變異]。p.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantAllelicFrequency SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [基因變異比例]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit SΣ 1..1 string Unit representation
Required Pattern: %
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
Required Pattern: %
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:dnaChangeType SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 CodeableConcept [DNA變異類型]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
...... text Σ 0..1 string Plain text representation of the concept
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:genomicRefSeqID SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:genomicDnaChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [基因組DNA變異]。g.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:proteinRefId SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [蛋白質參考序列編號]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:aminoAcidChangeType SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 CodeableConcept [胺基酸變異類型]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
...... text Σ 0..1 string Plain text representation of the concept
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantReadCount SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [變異測序讀數]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantTotalReadCount SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [變異區測序總讀數]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.category Base preferred Observation Category Codes 📍4.0.1 FHIR Std.
Observation.code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.bodySite Base example SNOMED CT Body Structures 📍4.0.1 FHIR Std.
Observation.method Base example Observation Methods 📍4.0.1 FHIR Std.
Observation.referenceRange.​type Base preferred Observation Reference Range Meaning Codes 📍4.0.1 FHIR Std.
Observation.referenceRange.​appliesTo Base example Observation Reference Range Applies To Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseName.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:dnaChangeType.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:proteinRefId.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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-4 error Observation 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-5 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-3 error Observation.referenceRange Must have at least a low or a high or text low.exists() or high.exists() or text.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Observation

Summary

Mandatory: 6 elements(60 nested mandatory elements)
Must-Support: 97 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the values of Observation.component

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
.... coding Σ 1..1 Coding Code defined by a terminology system
..... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
... subject SΣ 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... effective[x] SΣ 1..1 dateTime [NGS基因檢測日期]
... specimen S 0..1 Reference(基因檢測檢體-Specimen TWNGS) 基因檢測檢體類型
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... derivedFrom SΣ 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component SΣ 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... component:transcriptDatabaseName SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
..... value[x] SΣ 1..1 string [轉錄本參考資料庫名稱]
.... component:transcriptDatabaseRelease SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
..... value[x] SΣ 1..1 string [轉錄本參考資料庫版本]
.... component:transcriptID SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
..... value[x] SΣ 1..1 string [轉錄本參考序列]
.... component:dnaChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
..... value[x] SΣ 1..1 string [DNA變異]。c.HGVS
.... component:variantGeneSymbol SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
..... value[x] SΣ 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
.... component:aminoAcidChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
..... value[x] SΣ 1..1 string [胺基酸變異]。p.HGVS
.... component:variantAllelicFrequency SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
..... value[x] SΣ 1..1 Quantity [基因變異比例]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit SΣ 1..1 string Unit representation
Required Pattern: %
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
Required Pattern: %
.... component:dnaChangeType SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
..... value[x] SΣ 1..1 CodeableConcept [DNA變異類型]
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
.... component:genomicRefSeqID SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
..... value[x] SΣ 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
.... component:genomicDnaChange SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
..... value[x] SΣ 1..1 string [基因組DNA變異]。g.HGVS
.... component:proteinRefId SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
..... value[x] SΣ 1..1 string [蛋白質參考序列編號]
.... component:aminoAcidChangeType SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
..... value[x] SΣ 1..1 CodeableConcept [胺基酸變異類型]
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
.... component:variantReadCount SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
..... value[x] SΣ 1..1 Quantity [變異測序讀數]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
.... component:variantTotalReadCount SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
..... value[x] SΣ 1..1 Quantity [變異區測序總讀數]
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:genomicRefSeqID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:variantReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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-4 error Observation 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-5 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

Differential View

This structure is derived from Observation

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation Observation
... code S 1..1 CodeableConcept Type of observation (code / type)
.... coding 1..1 Coding Code defined by a terminology system
..... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
... subject S 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... effective[x] S 1..1 dateTime [NGS基因檢測日期]
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... derivedFrom S 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component S 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:transcriptDatabaseName S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
..... value[x] S 1..1 string [轉錄本參考資料庫名稱]
.... component:transcriptDatabaseRelease S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
..... value[x] S 1..1 string [轉錄本參考資料庫版本]
.... component:transcriptID S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
..... value[x] S 1..1 string [轉錄本參考序列]
.... component:dnaChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
..... value[x] S 1..1 string [DNA變異]。c.HGVS
.... component:variantGeneSymbol S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
..... value[x] S 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
.... component:aminoAcidChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
..... value[x] S 1..1 string [胺基酸變異]。p.HGVS
.... component:variantAllelicFrequency S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
..... value[x] S 1..1 Quantity [基因變異比例]
...... value S 1..1 decimal Numerical value (with implicit precision)
...... unit S 1..1 string Unit representation
Required Pattern: %
...... system 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code 0..1 code Coded form of the unit
Required Pattern: %
.... component:dnaChangeType S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
..... value[x] S 1..1 CodeableConcept [DNA變異類型]
...... coding 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
.... component:genomicRefSeqID S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
..... value[x] S 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
.... component:genomicDnaChange S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
..... value[x] S 1..1 string [基因組DNA變異]。g.HGVS
.... component:proteinRefId S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
..... value[x] S 1..1 string [蛋白質參考序列編號]
.... component:aminoAcidChangeType S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
..... value[x] S 1..1 CodeableConcept [胺基酸變異類型]
...... coding 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
.... component:variantReadCount S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
..... value[x] S 1..1 Quantity [變異測序讀數]
...... value S 1..1 decimal Numerical value (with implicit precision)
.... component:variantTotalReadCount S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Type of component observation (code / type)
...... coding S 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... system S 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... code S 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
..... value[x] S 1..1 Quantity [變異區測序總讀數]
...... value S 1..1 decimal Numerical value (with implicit precision)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... 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
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.
Additional BindingsPurpose
AllLanguages Max Binding
... 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
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
... code SΣ 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 1..1 Coding Code defined by a terminology system
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
..... version Σ 0..1 string Version of the system - if relevant
..... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 69548-6
..... display Σ 0..1 string Representation defined by the system
..... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣ 1..1 Reference(病人資訊-Patient TWNGS) 病人資訊
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
... effective[x] SΣ 1..1 dateTime [NGS基因檢測日期]
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... value[x] ΣC 0..1 Actual result
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
... note 0..* Annotation Comments about the observation
... bodySite 0..1 CodeableConcept Observed body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
... method 0..1 CodeableConcept How it was done
Binding: ObservationMethods (example): Methods for simple observations.
... specimen S 0..1 Reference(基因檢測檢體-Specimen TWNGS) 基因檢測檢體類型
... device S 0..1 Reference(基因定序檢測裝置-Device TWNGS) 基因定序儀型號，檢體病理編號
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... 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
.... low C 0..1 SimpleQuantity(4.0.1) Low Range, if relevant
.... high C 0..1 SimpleQuantity(4.0.1) High Range, if relevant
.... type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
.... appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
.... age 0..1 Range Applicable age range, if relevant
.... text 0..1 string Text based reference range in an observation
... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
... derivedFrom SΣ 0..* Reference(基因報告-DocumentReference TWNGS) Related measurements the observation is made from
... Slices for component SΣ 1..* BackboneElement Component results
Slice: Unordered, Open by value:code.coding.code
.... component:All Slices Content/Rules for all slices
..... 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
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptDatabaseName SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDB
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考資料庫名稱]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptDatabaseRelease SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: transcriptDBVersion
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考資料庫版本]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:transcriptID SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [轉錄本參考序列]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:dnaChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [DNA變異]。c.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantGeneSymbol SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 [變異基因符號]
...... valueCodeableConcept CodeableConcept
...... valueString string
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:aminoAcidChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [胺基酸變異]。p.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantAllelicFrequency SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81258-6
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [基因變異比例]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit SΣ 1..1 string Unit representation
Required Pattern: %
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
Required Pattern: %
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:dnaChangeType SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 CodeableConcept [DNA變異類型]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: DNA變異類型值集 (required)
...... text Σ 0..1 string Plain text representation of the concept
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:genomicRefSeqID SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [基因組參考序列]。依HGVS染色體編號後需註名版本.XX
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:genomicDnaChange SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [基因組DNA變異]。g.HGVS
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:proteinRefId SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: proteinRefId
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 string [蛋白質參考序列編號]
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:aminoAcidChangeType SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: aminoAcidChangeType
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 CodeableConcept [胺基酸變異類型]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
Binding: 胺基酸變異類型值集 (required)
...... text Σ 0..1 string Plain text representation of the concept
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantReadCount SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://loinc.org
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: 82121-5
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [變異測序讀數]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:variantTotalReadCount SΣ 0..1 BackboneElement Component results
..... 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
..... code SΣ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding SΣ 1..1 Coding Code defined by a terminology system
Binding: 基因變異類型值集 (required)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system SΣ 1..1 uri Identity of the terminology system
Required Pattern: http://example.org/CodeSystem/genomic-variant-cs
....... version Σ 0..1 string Version of the system - if relevant
....... code SΣ 1..1 code Symbol in syntax defined by the system
Required Pattern: totalReadDepth
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] SΣ 1..1 Quantity [變異區測序總讀數]
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value SΣ 1..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.
...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.category Base preferred Observation Category Codes 📍4.0.1 FHIR Std.
Observation.code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.bodySite Base example SNOMED CT Body Structures 📍4.0.1 FHIR Std.
Observation.method Base example Observation Methods 📍4.0.1 FHIR Std.
Observation.referenceRange.​type Base preferred Observation Reference Range Meaning Codes 📍4.0.1 FHIR Std.
Observation.referenceRange.​appliesTo Base example Observation Reference Range Applies To Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseName.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseName.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:transcriptDatabaseRelease.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptDatabaseRelease.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:transcriptID.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:dnaChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantGeneSymbol.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantAllelicFrequency.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​value[x].coding Base required DNA變異類型值集 📦0.1.0 This IG
Observation.component:dnaChangeType.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:dnaChangeType.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:genomicRefSeqID.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:genomicDnaChange.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:proteinRefId.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:proteinRefId.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​value[x].coding Base required 胺基酸變異類型值集 📦0.1.0 This IG
Observation.component:aminoAcidChangeType.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:aminoAcidChangeType.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantReadCount.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​code.coding Base required 基因變異類型值集 📦0.1.0 This IG
Observation.component:variantTotalReadCount.​value[x].comparator Base required QuantityComparator 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:variantTotalReadCount.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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-4 error Observation 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-5 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-3 error Observation.referenceRange Must have at least a low or a high or text low.exists() or high.exists() or text.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Observation

Summary

Mandatory: 6 elements(60 nested mandatory elements)
Must-Support: 97 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the values of Observation.component

 

Other representations of profile: CSV, Excel, Schematron