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

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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

Usages:

• Use this Profile: 次世代基因定序檢測-Bundle TWNGS
• Refer to this 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 Profile: Observation/obs-diagnostic-min, Observation/obs-lung-min and Observation/obs-nos-min
• CapabilityStatements using this Profile: 臺灣次世代基因定序檢測-用戶端(TWNGS Client) and 臺灣次世代基因定序檢測-伺服端(TWNGS Server)

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

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

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

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..1	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。
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
value	SΣ	0..1	string	The value that is unique Example General: 123456
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
code	Σ	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
coding	Σ	1..1	Coding	Code defined by a terminology system
system	Σ	0..1	uri	Identity of the terminology system Required Pattern: http://loinc.org
code	SΣ	1..1	code	Symbol in syntax defined by the system Required Pattern: 69548-6
subject	SΣ	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	SΣ	1..1	dateTime	基因檢測日期
performer	SΣ	1..1	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]	SΣC	1..1	CodeableConcept	基因檢測分析結果
coding	SΣ	1..1	Coding	Code defined by a terminology system
code	SΣ	1..1	code	Symbol in syntax defined by the system
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
method	S	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	S	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
derivedFrom	SΣ	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component	Σ	3..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-test-code	Σ	1..1	BackboneElement	基因檢測項目(基因檢測代碼)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
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]	Σ	1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
text	Σ	0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:gene-list	Σ	1..*	BackboneElement	檢測基因列表
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
component:representative-coding-hgvs	Σ	1..*	BackboneElement	DNA變異 (c.HGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
text	Σ	0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:genomic-hgvs	Σ	0..*	BackboneElement	基因組DNA變異 (gHGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	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: Human Genome Variation Society (HGVS) Nomenclature (required)
component:exact-start-end	Σ	0..1	BackboneElement	基因變異的精確起始與終止位置
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	0..1	Range	基因變異的精確範圍
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.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.method	example	Pattern Value: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods From the FHIR Standard
Observation.component.code	example	LOINCCodes(a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.code	example	Pattern Value: LOINC Code 81247-9("Master HL7 genetic variant reporting panel") http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.code	example	Pattern Value: 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	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs From this IG
Observation.component:representative-coding-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes 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()

This structure is derived from Observation

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation			Observation
identifier	S	1..1	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。
value	S	0..1	string	The value that is unique
code
coding		1..1	Coding	Code defined by a terminology system
system		0..1	uri	Identity of the terminology system Required Pattern: http://loinc.org
code	S	1..1	code	Symbol in syntax defined by the system Required Pattern: 69548-6
subject	S	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	S	1..1	dateTime	基因檢測日期
performer	S	1..1	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	1..1	CodeableConcept	基因檢測分析結果
coding	S	1..1	Coding	Code defined by a terminology system
code	S	1..1	code	Symbol in syntax defined by the system
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果
method	S	1..1	CodeableConcept	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	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
derivedFrom	S	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component		3..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:gene-test-code		1..1	BackboneElement	基因檢測項目(基因檢測代碼)
code		1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
value[x]		1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
coding
code		1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
text		0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:gene-list		1..*	BackboneElement	檢測基因列表
code		1..1	CodeableConcept	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..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
component:representative-coding-hgvs		1..*	BackboneElement	DNA變異 (c.HGVS)
code		1..1	CodeableConcept	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..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
coding
code		1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
text		0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:genomic-hgvs		0..*	BackboneElement	基因組DNA變異 (gHGVS)
code		1..1	CodeableConcept	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..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: Human Genome Variation Society (HGVS) Nomenclature (required)
component:exact-start-end		0..1	BackboneElement	基因變異的精確起始與終止位置
code		1..1	CodeableConcept	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]		0..1	Range	基因變異的精確範圍
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.value[x]	required	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs From this IG
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..1	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		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	Σ	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	Σ	0..1	Period	Time period when id is/was valid for use
assigner	Σ	0..1	Reference(Organization)	Organization that issued id (may be just text)
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		0..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code	Σ	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	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	SΣ	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
effective[x]	SΣ	1..1	dateTime	基因檢測日期
issued	Σ	0..1	instant	Date/Time this version was made available
performer	SΣ	1..1	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]	SΣC	1..1	CodeableConcept	基因檢測分析結果
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	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	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	Annotation	Comments about the observation
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method	S	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	S	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation Constraints: obs-3
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component	Σ	3..*	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-test-code	Σ	1..1	BackboneElement	基因檢測項目(基因檢測代碼)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
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]	Σ	1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
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	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-list	Σ	1..*	BackboneElement	檢測基因列表
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:representative-coding-hgvs	Σ	1..*	BackboneElement	DNA變異 (c.HGVS)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
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	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-hgvs	Σ	0..*	BackboneElement	基因組DNA變異 (gHGVS)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	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: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:exact-start-end	Σ	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	0..1	Range	基因變異的精確範圍
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
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 Value: 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	example	LOINCCodes(a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
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:gene-test-code.code	example	Pattern Value: LOINC Code 81247-9("Master HL7 genetic variant reporting panel") http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.code	example	Pattern Value: 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	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs 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:representative-coding-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
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	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
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 Value: 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()

This structure is derived from Observation

Summary

Mandatory: 22 elements(3 nested mandatory elements)
Must-Support: 16 elements

Structures

This structure refers to these other structures:

• 病人資訊-Patient TWNGS (https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Patient-twngs)
• 基因檢測機構-Organization Gene TWNGS (https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-gene-twngs)
• 基因檢測檢體-Specimen TWNGS (https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Specimen-twngs)
• 基因定序檢測裝置-Device TWNGS (https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Device-twngs)
• 基因報告-DocumentReference TWNGS (https://nhicore.nhi.gov.tw/ngs/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    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..1	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。
use	?!Σ	0..1	code	usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
value	SΣ	0..1	string	The value that is unique Example General: 123456
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
code	Σ	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
coding	Σ	1..1	Coding	Code defined by a terminology system
system	Σ	0..1	uri	Identity of the terminology system Required Pattern: http://loinc.org
code	SΣ	1..1	code	Symbol in syntax defined by the system Required Pattern: 69548-6
subject	SΣ	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	SΣ	1..1	dateTime	基因檢測日期
performer	SΣ	1..1	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]	SΣC	1..1	CodeableConcept	基因檢測分析結果
coding	SΣ	1..1	Coding	Code defined by a terminology system
code	SΣ	1..1	code	Symbol in syntax defined by the system
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
method	S	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	S	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
derivedFrom	SΣ	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component	Σ	3..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-test-code	Σ	1..1	BackboneElement	基因檢測項目(基因檢測代碼)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
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]	Σ	1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
text	Σ	0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:gene-list	Σ	1..*	BackboneElement	檢測基因列表
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
component:representative-coding-hgvs	Σ	1..*	BackboneElement	DNA變異 (c.HGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
text	Σ	0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:genomic-hgvs	Σ	0..*	BackboneElement	基因組DNA變異 (gHGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	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: Human Genome Variation Society (HGVS) Nomenclature (required)
component:exact-start-end	Σ	0..1	BackboneElement	基因變異的精確起始與終止位置
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	0..1	Range	基因變異的精確範圍
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.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.method	example	Pattern Value: LOINC Code LA26398-0("Sequencing") http://hl7.org/fhir/ValueSet/observation-methods From the FHIR Standard
Observation.component.code	example	LOINCCodes(a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.code	example	Pattern Value: LOINC Code 81247-9("Master HL7 genetic variant reporting panel") http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.code	example	Pattern Value: 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	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs From this IG
Observation.component:representative-coding-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5("Genomic allele start-end") http://hl7.org/fhir/ValueSet/observation-codes 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()

Differential View

This structure is derived from Observation

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation			Observation
identifier	S	1..1	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。
value	S	0..1	string	The value that is unique
code
coding		1..1	Coding	Code defined by a terminology system
system		0..1	uri	Identity of the terminology system Required Pattern: http://loinc.org
code	S	1..1	code	Symbol in syntax defined by the system Required Pattern: 69548-6
subject	S	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
effective[x]	S	1..1	dateTime	基因檢測日期
performer	S	1..1	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	1..1	CodeableConcept	基因檢測分析結果
coding	S	1..1	Coding	Code defined by a terminology system
code	S	1..1	code	Symbol in syntax defined by the system
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果
method	S	1..1	CodeableConcept	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	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
derivedFrom	S	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component		3..*	BackboneElement	Component results Slice: Unordered, Open by value:code
component:gene-test-code		1..1	BackboneElement	基因檢測項目(基因檢測代碼)
code		1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
value[x]		1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
coding
code		1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
text		0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:gene-list		1..*	BackboneElement	檢測基因列表
code		1..1	CodeableConcept	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..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
component:representative-coding-hgvs		1..*	BackboneElement	DNA變異 (c.HGVS)
code		1..1	CodeableConcept	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..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
coding
code		1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
text		0..1	string	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
component:genomic-hgvs		0..*	BackboneElement	基因組DNA變異 (gHGVS)
code		1..1	CodeableConcept	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..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: Human Genome Variation Society (HGVS) Nomenclature (required)
component:exact-start-end		0..1	BackboneElement	基因變異的精確起始與終止位置
code		1..1	CodeableConcept	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]		0..1	Range	基因變異的精確範圍
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.value[x]	required	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs From this IG
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs

Snapshot View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Observation	Measurements and simple assertions Constraints: obs-6, obs-7
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..1	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		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	Σ	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	Σ	0..1	Period	Time period when id is/was valid for use
assigner	Σ	0..1	Reference(Organization)	Organization that issued id (may be just text)
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		0..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code	Σ	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	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	SΣ	1..1	Reference(病人資訊-Patient TWNGS)	病人資訊
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
effective[x]	SΣ	1..1	dateTime	基因檢測日期
issued	Σ	0..1	instant	Date/Time this version was made available
performer	SΣ	1..1	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]	SΣC	1..1	CodeableConcept	基因檢測分析結果
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	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	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..*	CodeableConcept	基因臨床判讀結果，醫師判讀結果 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	Annotation	Comments about the observation
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method	S	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	S	1..1	Reference(基因檢測檢體-Specimen TWNGS)	基因檢測檢體類型
device	S	1..1	Reference(基因定序檢測裝置-Device TWNGS)	基因定序儀型號，檢體病理編號
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation Constraints: obs-3
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..*	Reference(基因報告-DocumentReference TWNGS)	基因報告
Slices for component	Σ	3..*	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-test-code	Σ	1..1	BackboneElement	基因檢測項目(基因檢測代碼)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Master HL7 genetic variant reporting panel 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: 81247-9
display		1..1	string	Representation defined by the system Fixed Value: Master HL7 genetic variant reporting panel
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]	Σ	1..1	CodeableConcept	Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..1	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
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	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-list	Σ	1..*	BackboneElement	檢測基因列表
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	1..1	CodeableConcept	HGNC基因表包含基因ID、基因符號和完整基因名稱。 Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:representative-coding-hgvs	Σ	1..*	BackboneElement	DNA變異 (c.HGVS)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	1..1	CodeableConcept	使用HGVS的'c.'字串表示DNA之變異，如：NM_005228.5:c.2369C>T。 Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation	S	1..*	CodeableConcept	基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	1..1	code	LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
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	基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-hgvs	Σ	0..*	BackboneElement	基因組DNA變異 (gHGVS)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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]	Σ	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: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:exact-start-end	Σ	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	0..1	Range	基因變異的精確範圍
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
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 Value: 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	example	LOINCCodes(a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
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:gene-test-code.code	example	Pattern Value: LOINC Code 81247-9("Master HL7 genetic variant reporting panel") http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-test-code.value[x]	required	GeneTestCode https://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code From this IG
Observation.component:gene-test-code.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:gene-test-code.interpretation	extensible	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:gene-list.code	example	Pattern Value: 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	HGNCVS https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs 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:representative-coding-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
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	DNAChangeType https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type From this IG
Observation.component:genomic-hgvs.code	example	Pattern Value: 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	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
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 Value: 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()

This structure is derived from Observation

Summary

Mandatory: 22 elements(3 nested mandatory elements)
Must-Support: 16 elements

Structures

This structure refers to these other structures:

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

Slices

This structure defines the following Slices:

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