NGS IG - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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Resource Profile: 基因資訊-Observation TWNGS

此基因資訊-Observation 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基因資訊

Usage:

• Use this Resource Profile: 次世代基因定序檢測-Bundle TWNGS
• Refer to this Resource Profile: 基因定序檢測證明文件-Composition TWNGS and 基因定序檢測報告-DiagnosticReport TWNGS
• Examples for this Resource Profile: Observation/obs-diagnostic-min

Formal Views of Profile Content

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

• Key Elements Table
• Differential Table
• Snapshot Table
• Statistics/References
• All

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Observation	Measurements and simple assertions dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-6: A resource should have narrative for robust management dom-5: If a resource is contained in another resource, it SHALL NOT have a security label obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
modifierExtension	?!N	0..*	Extension	Extensions that cannot be ignored Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
identifier	SΣN	0..*	Identifier	NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。 ele-1: All FHIR elements must have a @value or children
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . ele-1: All FHIR elements must have a @value or children
value	SΣ	0..1	string	The value that is unique ele-1: All FHIR elements must have a @value or children Example General: 123456
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children
code	ΣN	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
coding	ΣN	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
system	Σ	0..1	uri	Identity of the terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: http://loinc.org
code	SΣ	1..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children Required Pattern: 69548-6
subject	SΣCN	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
effective[x]	SΣN	0..1	dateTime	基因檢測日期 ele-1: All FHIR elements must have a @value or children
performer	SΣCN	0..*	Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
value[x]	SΣCN	0..1	CodeableConcept	基因檢測分析結果 ele-1: All FHIR elements must have a @value or children
coding	SΣN	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
code	SΣ	1..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
interpretation	SN	0..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. ele-1: All FHIR elements must have a @value or children
method	SN	1..1	CodeableConcept	基因檢測方法 Binding: ObservationMethods (example): Methods for simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
specimen	SCN	0..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
device	SCN	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 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
derivedFrom	SΣCN	0..*	Reference(基因報告-DocumentReference TWNGS)	基因報告 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
Slices for component	ΣN	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code ele-1: All FHIR elements must have a @value or children
component:All Slices				Content/Rules for all slices
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	SΣN	1..1	CodeableConcept	基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:representative-coding-hgvs	ΣN	0..1	BackboneElement	DNA變異 (c.HGVS) ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	DNA change (c.HGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:gene-list	ΣN	0..*	BackboneElement	檢測基因列表 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Gene studied [ID] Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
value[x]	ΣN	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:genomic-hgvs	ΣN	0..1	BackboneElement	基因組DNA變異 (gHGVS) ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Genomic DNA change (gHGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:exact-start-end	ΣN	0..1	BackboneElement	基因變異的精確起始與終止位置 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Genomic allele start-end Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
value[x]	ΣN	0..1	Range	基因變異的精確範圍 ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.identifier.use	required	IdentifierUse http://hl7.org/fhir/ValueSet/identifier-use|4.0.1 from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.method	example	Pattern: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern: LOINC Code 48004-6("DNA change (c.HGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-list.code	example	Pattern: LOINC Code 48018-6("Gene studied [ID]") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:gene-list.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9("Genomic DNA change (gHGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()
ref-1	error	Observation.subject, Observation.performer, Observation.specimen, Observation.device, Observation.derivedFrom	SHALL have a contained resource if a local reference is provided : reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

This structure is derived from Observation

Name	Flags	Card.	Type	Description & Constraints
Observation			Observation
identifier	S			NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。
value	S
code
coding		1..1
system				Required Pattern: http://loinc.org
code	S	1..		Required Pattern: 69548-6
subject	S	1..	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	S		dateTime	基因檢測日期
performer	S		Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」
value[x]	S		CodeableConcept	基因檢測分析結果
coding	S	1..1
code	S	1..
interpretation	S			基因臨床判讀結果，醫師判讀結果
method	S	1..		基因檢測方法 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
specimen	S		Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S		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		Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component				Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
code	S			基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible)
component:representative-coding-hgvs		..1		DNA變異 (c.HGVS)
code				DNA change (c.HGVS) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
value[x]		1..	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required)
component:gene-list				檢測基因列表
code				Gene studied [ID] Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
value[x]		1..	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required)
component:genomic-hgvs		..1		基因組DNA變異 (gHGVS)
code				Genomic DNA change (gHGVS) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
value[x]		1..	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required)
component:exact-start-end		..1		基因變異的精確起始與終止位置
code				Genomic allele start-end Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
value[x]			Range	基因變異的精確範圍
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Observation	Measurements and simple assertions obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
id	Σ	0..1	string	Logical id of this artifact
meta	ΣN	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 Bindings Purpose AllLanguages Max Binding
text	N	0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!N	0..*	Extension	Extensions that cannot be ignored Slice: Unordered, Open by value:url
identifier	SΣN	0..*	Identifier	NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
type	ΣN	0..1	CodeableConcept	Description of identifier Binding: Identifier Type Codes (extensible): A coded type for an identifier that can be used to determine which identifier to use for a specific purpose.
system	Σ	0..1	uri	The namespace for the identifier value Example General: http://www.acme.com/identifiers/patient
value	SΣ	0..1	string	The value that is unique Example General: 123456
period	ΣCN	0..1	Period	Time period when id is/was valid for use per-1: If present, start SHALL have a lower value than end
assigner	ΣCN	0..1	Reference(Organization)	Organization that issued id (may be just text) ref-1: SHALL have a contained resource if a local reference is provided
basedOn	ΣCN	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order ref-1: SHALL have a contained resource if a local reference is provided
partOf	ΣCN	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event ref-1: SHALL have a contained resource if a local reference is provided
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category	N	0..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code	ΣN	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	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	ΣN	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..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	SΣCN	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊 ref-1: SHALL have a contained resource if a local reference is provided
focus	ΣCTU	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record ref-1: SHALL have a contained resource if a local reference is provided
encounter	ΣCN	0..1	Reference(Encounter)	Healthcare event during which this observation is made ref-1: SHALL have a contained resource if a local reference is provided
effective[x]	SΣN	0..1	dateTime	基因檢測日期
issued	Σ	0..1	instant	Date/Time this version was made available
performer	SΣCN	0..*	Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」 ref-1: SHALL have a contained resource if a local reference is provided
value[x]	SΣCN	0..1	CodeableConcept	基因檢測分析結果
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣN	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Symbol in syntax defined by the system
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
dataAbsentReason	CN	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	SN	0..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note	N	0..*	Annotation	Comments about the observation
bodySite	N	0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method	SN	1..1	CodeableConcept	基因檢測方法 Binding: ObservationMethods (example): Methods for simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
specimen	SCN	0..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型 ref-1: SHALL have a contained resource if a local reference is provided
device	SCN	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 ref-1: SHALL have a contained resource if a local reference is provided
referenceRange	CN	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	CN	0..1	SimpleQuantity	Low Range, if relevant qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
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
high	CN	0..1	SimpleQuantity	High Range, if relevant qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
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
type	N	0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo	N	0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age	CN	0..1	Range	Applicable age range, if relevant rng-2: If present, low SHALL have a lower value than high
text		0..1	string	Text based reference range in an observation
hasMember	ΣCN	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group ref-1: SHALL have a contained resource if a local reference is provided
derivedFrom	SΣCN	0..*	Reference(基因報告-DocumentReference TWNGS)	基因報告 ref-1: SHALL have a contained resource if a local reference is provided
Slices for component	ΣN	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣN	1..1	CodeableConcept	基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible): Codes identifying names of simple observations.
value[x]	ΣN	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	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:representative-coding-hgvs	ΣN	0..1	BackboneElement	DNA變異 (c.HGVS)
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	DNA change (c.HGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:gene-list	ΣN	0..*	BackboneElement	檢測基因列表
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Gene studied [ID] Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:genomic-hgvs	ΣN	0..1	BackboneElement	基因組DNA變異 (gHGVS)
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Genomic DNA change (gHGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:exact-start-end	ΣN	0..1	BackboneElement	基因變異的精確起始與終止位置
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Genomic allele start-end Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	0..1	Range	基因變異的精確範圍
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Observation.identifier.use	required	IdentifierUse http://hl7.org/fhir/ValueSet/identifier-use|4.0.1 from the FHIR Standard
Observation.identifier.type	extensible	Identifier Type Codes http://hl7.org/fhir/ValueSet/identifier-type from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	example	Pattern: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern: LOINC Code 48004-6("DNA change (c.HGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:representative-coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-list.code	example	Pattern: LOINC Code 48018-6("Gene studied [ID]") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:gene-list.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-list.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9("Genomic DNA change (gHGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()
per-1	error	Observation.identifier.period	If present, start SHALL have a lower value than end : start.hasValue().not() or end.hasValue().not() or (start <= end)
qty-3	error	Observation.referenceRange.low, Observation.referenceRange.high	If a code for the unit is present, the system SHALL also be present : code.empty() or system.exists()
ref-1	error	Observation.identifier.assigner, Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom	SHALL have a contained resource if a local reference is provided : reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2	error	Observation.referenceRange.age	If present, low SHALL have a lower value than high : low.empty() or high.empty() or (low <= high)
sqty-1	error	Observation.referenceRange.low, Observation.referenceRange.high	The comparator is not used on a SimpleQuantity : comparator.empty()

This structure is derived from Observation

Summary

Mandatory: 0 element(9 nested mandatory elements)
Must-Support: 15 elements

Structures

This structure refers to these other structures:

• 病人資訊-Patient TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Patient-twngs)
• 基因檢測機構-Organization Gene TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Organization-gene-twngs)
• 基因檢測檢體-Specimen TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Specimen-twngs)
• 基因定序檢測裝置-Device TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Device-twngs)
• 基因報告-DocumentReference TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/DocumentReference-twngs)

Slices

This structure defines the following Slices:

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

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Observation	Measurements and simple assertions dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-6: A resource should have narrative for robust management dom-5: If a resource is contained in another resource, it SHALL NOT have a security label obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
modifierExtension	?!N	0..*	Extension	Extensions that cannot be ignored Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
identifier	SΣN	0..*	Identifier	NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。 ele-1: All FHIR elements must have a @value or children
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . ele-1: All FHIR elements must have a @value or children
value	SΣ	0..1	string	The value that is unique ele-1: All FHIR elements must have a @value or children Example General: 123456
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children
code	ΣN	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
coding	ΣN	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
system	Σ	0..1	uri	Identity of the terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: http://loinc.org
code	SΣ	1..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children Required Pattern: 69548-6
subject	SΣCN	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
effective[x]	SΣN	0..1	dateTime	基因檢測日期 ele-1: All FHIR elements must have a @value or children
performer	SΣCN	0..*	Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
value[x]	SΣCN	0..1	CodeableConcept	基因檢測分析結果 ele-1: All FHIR elements must have a @value or children
coding	SΣN	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
code	SΣ	1..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
interpretation	SN	0..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. ele-1: All FHIR elements must have a @value or children
method	SN	1..1	CodeableConcept	基因檢測方法 Binding: ObservationMethods (example): Methods for simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
specimen	SCN	0..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
device	SCN	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 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
derivedFrom	SΣCN	0..*	Reference(基因報告-DocumentReference TWNGS)	基因報告 ele-1: All FHIR elements must have a @value or children ref-1: SHALL have a contained resource if a local reference is provided
Slices for component	ΣN	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code ele-1: All FHIR elements must have a @value or children
component:All Slices				Content/Rules for all slices
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	SΣN	1..1	CodeableConcept	基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:representative-coding-hgvs	ΣN	0..1	BackboneElement	DNA變異 (c.HGVS) ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	DNA change (c.HGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:gene-list	ΣN	0..*	BackboneElement	檢測基因列表 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Gene studied [ID] Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
value[x]	ΣN	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:genomic-hgvs	ΣN	0..1	BackboneElement	基因組DNA變異 (gHGVS) ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Genomic DNA change (gHGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required) ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
component:exact-start-end	ΣN	0..1	BackboneElement	基因變異的精確起始與終止位置 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	ΣN	1..1	CodeableConcept	Genomic allele start-end Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
value[x]	ΣN	0..1	Range	基因變異的精確範圍 ele-1: All FHIR elements must have a @value or children
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.identifier.use	required	IdentifierUse http://hl7.org/fhir/ValueSet/identifier-use|4.0.1 from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.method	example	Pattern: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern: LOINC Code 48004-6("DNA change (c.HGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-list.code	example	Pattern: LOINC Code 48018-6("Gene studied [ID]") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:gene-list.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9("Genomic DNA change (gHGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()
ref-1	error	Observation.subject, Observation.performer, Observation.specimen, Observation.device, Observation.derivedFrom	SHALL have a contained resource if a local reference is provided : reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

Differential View

This structure is derived from Observation

Name	Flags	Card.	Type	Description & Constraints
Observation			Observation
identifier	S			NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。
value	S
code
coding		1..1
system				Required Pattern: http://loinc.org
code	S	1..		Required Pattern: 69548-6
subject	S	1..	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	S		dateTime	基因檢測日期
performer	S		Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」
value[x]	S		CodeableConcept	基因檢測分析結果
coding	S	1..1
code	S	1..
interpretation	S			基因臨床判讀結果，醫師判讀結果
method	S	1..		基因檢測方法 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
specimen	S		Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S		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		Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component				Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
code	S			基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible)
component:representative-coding-hgvs		..1		DNA變異 (c.HGVS)
code				DNA change (c.HGVS) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
value[x]		1..	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required)
component:gene-list				檢測基因列表
code				Gene studied [ID] Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
value[x]		1..	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required)
component:genomic-hgvs		..1		基因組DNA變異 (gHGVS)
code				Genomic DNA change (gHGVS) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
value[x]		1..	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required)
component:exact-start-end		..1		基因變異的精確起始與終止位置
code				Genomic allele start-end Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
value[x]			Range	基因變異的精確範圍
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Observation	Measurements and simple assertions obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
id	Σ	0..1	string	Logical id of this artifact
meta	ΣN	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 Bindings Purpose AllLanguages Max Binding
text	N	0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!N	0..*	Extension	Extensions that cannot be ignored Slice: Unordered, Open by value:url
identifier	SΣN	0..*	Identifier	NGS檢測編號(VPN取號)，編號由「適用癌別+取號西元年+流水號5碼」組成。
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
type	ΣN	0..1	CodeableConcept	Description of identifier Binding: Identifier Type Codes (extensible): A coded type for an identifier that can be used to determine which identifier to use for a specific purpose.
system	Σ	0..1	uri	The namespace for the identifier value Example General: http://www.acme.com/identifiers/patient
value	SΣ	0..1	string	The value that is unique Example General: 123456
period	ΣCN	0..1	Period	Time period when id is/was valid for use per-1: If present, start SHALL have a lower value than end
assigner	ΣCN	0..1	Reference(Organization)	Organization that issued id (may be just text) ref-1: SHALL have a contained resource if a local reference is provided
basedOn	ΣCN	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order ref-1: SHALL have a contained resource if a local reference is provided
partOf	ΣCN	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event ref-1: SHALL have a contained resource if a local reference is provided
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category	N	0..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code	ΣN	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	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	ΣN	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..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	SΣCN	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊 ref-1: SHALL have a contained resource if a local reference is provided
focus	ΣCTU	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record ref-1: SHALL have a contained resource if a local reference is provided
encounter	ΣCN	0..1	Reference(Encounter)	Healthcare event during which this observation is made ref-1: SHALL have a contained resource if a local reference is provided
effective[x]	SΣN	0..1	dateTime	基因檢測日期
issued	Σ	0..1	instant	Date/Time this version was made available
performer	SΣCN	0..*	Reference(基因檢測機構-Organization Gene TWNGS)	基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」 ref-1: SHALL have a contained resource if a local reference is provided
value[x]	SΣCN	0..1	CodeableConcept	基因檢測分析結果
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣN	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	SΣ	1..1	code	Symbol in syntax defined by the system
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
dataAbsentReason	CN	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	SN	0..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note	N	0..*	Annotation	Comments about the observation
bodySite	N	0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method	SN	1..1	CodeableConcept	基因檢測方法 Binding: ObservationMethods (example): Methods for simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LA26398-0
display		1..1	string	Representation defined by the system Fixed Value: Sequencing
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
specimen	SCN	0..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型 ref-1: SHALL have a contained resource if a local reference is provided
device	SCN	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 ref-1: SHALL have a contained resource if a local reference is provided
referenceRange	CN	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	CN	0..1	SimpleQuantity	Low Range, if relevant qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
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
high	CN	0..1	SimpleQuantity	High Range, if relevant qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
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
type	N	0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo	N	0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age	CN	0..1	Range	Applicable age range, if relevant rng-2: If present, low SHALL have a lower value than high
text		0..1	string	Text based reference range in an observation
hasMember	ΣCN	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group ref-1: SHALL have a contained resource if a local reference is provided
derivedFrom	SΣCN	0..*	Reference(基因報告-DocumentReference TWNGS)	基因報告 ref-1: SHALL have a contained resource if a local reference is provided
Slices for component	ΣN	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣN	1..1	CodeableConcept	基因檢測代碼 Binding: LOINC-基因檢測代碼值集 (extensible): Codes identifying names of simple observations.
value[x]	ΣN	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	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:representative-coding-hgvs	ΣN	0..1	BackboneElement	DNA變異 (c.HGVS)
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	DNA change (c.HGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		1..1	string	Representation defined by the system Fixed Value: DNA change (c.HGVS)
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: HGVS Gene Code (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:gene-list	ΣN	0..*	BackboneElement	檢測基因列表
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Gene studied [ID] Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		1..1	string	Representation defined by the system Fixed Value: Gene studied [ID]
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HGNC Gnen ID (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:genomic-hgvs	ΣN	0..1	BackboneElement	基因組DNA變異 (gHGVS)
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Genomic DNA change (gHGVS) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		1..1	string	Representation defined by the system Fixed Value: Genomic DNA change (gHGVS)
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	1..1	CodeableConcept	使用HGVS的'g.' 字串表示基因組DNA變異，如：NC_000016.9:g.2124200_2138612dup。 Binding: HGVS Gene Code (required)
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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:exact-start-end	ΣN	0..1	BackboneElement	基因變異的精確起始與終止位置
id		0..1	string	Unique id for inter-element referencing
extension	N	0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
modifierExtension	?!ΣN	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣN	1..1	CodeableConcept	Genomic allele start-end Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		1..1	string	Representation defined by the system Fixed Value: Genomic allele start-end
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣN	0..1	Range	基因變異的精確範圍
dataAbsentReason	CN	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	N	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
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Observation.identifier.use	required	IdentifierUse http://hl7.org/fhir/ValueSet/identifier-use|4.0.1 from the FHIR Standard
Observation.identifier.type	extensible	Identifier Type Codes http://hl7.org/fhir/ValueSet/identifier-type from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	example	Pattern: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	extensible	GeneTestCode https://www.ghd.tw/cdm-fhir/ValueSet/gene-test-code from this IG
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern: LOINC Code 48004-6("DNA change (c.HGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:representative-coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-list.code	example	Pattern: LOINC Code 48018-6("Gene studied [ID]") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-list.value[x]	required	HGNCGnenID https://www.ghd.tw/cdm-fhir/ValueSet/hgnc-gene-id from this IG
Observation.component:gene-list.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-list.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9("Genomic DNA change (gHGVS)") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSGeneCode https://www.ghd.tw/cdm-fhir/ValueSet/hgvs-gene-code from this IG
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()
per-1	error	Observation.identifier.period	If present, start SHALL have a lower value than end : start.hasValue().not() or end.hasValue().not() or (start <= end)
qty-3	error	Observation.referenceRange.low, Observation.referenceRange.high	If a code for the unit is present, the system SHALL also be present : code.empty() or system.exists()
ref-1	error	Observation.identifier.assigner, Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom	SHALL have a contained resource if a local reference is provided : reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2	error	Observation.referenceRange.age	If present, low SHALL have a lower value than high : low.empty() or high.empty() or (low <= high)
sqty-1	error	Observation.referenceRange.low, Observation.referenceRange.high	The comparator is not used on a SimpleQuantity : comparator.empty()

This structure is derived from Observation

Summary

Mandatory: 0 element(9 nested mandatory elements)
Must-Support: 15 elements

Structures

This structure refers to these other structures:

• 病人資訊-Patient TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Patient-twngs)
• 基因檢測機構-Organization Gene TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Organization-gene-twngs)
• 基因檢測檢體-Specimen TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Specimen-twngs)
• 基因定序檢測裝置-Device TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/Device-twngs)
• 基因報告-DocumentReference TWNGS (https://www.ghd.tw/cdm-fhir/StructureDefinition/DocumentReference-twngs)

Slices

This structure defines the following Slices:

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