臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. See the Directory of published versions
| Official URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs | Version: 1.0.1 | |||
| Active as of 2026-10-14 | Computable Name: ObservationTWNGS | |||
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:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints Filter:  |
|---|---|---|---|---|
  Observation |
C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7 |
  implicitRules |
0..1 | uri | A set of rules under which this content was created | |
 modifierExtension |
0..* | Extension | Extensions that cannot be ignored | |
  identifier |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」組成。 | |
 use |
0..1 | code | usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . | |
 value |
0..1 | string | The value that is unique Example General: 123456 | |
| status |
1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | |
| code |
1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |
 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 |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |
 subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |
| performer |
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] |
C | 1..1 | CodeableConcept | 基因檢測分析結果 |
| coding |
1..1 | Coding | Code defined by a terminology system | |
| code |
1..1 | code | Symbol in syntax defined by the system | |
| interpretation |
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 |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |
| device |
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 |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |
  component:All Slices |
Content/Rules for all slices | |||
  modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
 code |
1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |
 component:gene-test-code |
1..1 | BackboneElement | 基因檢測項目(基因檢測代碼) | |
 modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
 code |
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] |
1..1 | CodeableConcept | Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required) | |
 interpretation |
1..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible) | |
| 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 | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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) | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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 |
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 |
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) | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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 | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
0..1 | Range | 基因變異的精確範圍 | |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.identifier.use | Base | required | IdentifierUse | 📍4.0.1 | FHIR Std. |
| Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std. |
| Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std. |
| Observation.component.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:exact-start-end.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource |
contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
|
| dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Observation | A resource should have narrative for robust management |
text.`div`.exists()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present |
dataAbsentReason.empty() or value.empty()
|
| obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
|
This structure is derived from Observation
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Observation |
Observation | |||
| identifier |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」組成。 | |
| value |
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 |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |
| subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |
| performer |
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] |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| coding |
1..1 | Coding | Code defined by a terminology system | |
| code |
1..1 | code | Symbol in syntax defined by the system | |
| interpretation |
1..* | CodeableConcept | 基因臨床判讀結果，醫師判讀結果 | |
| method |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |
| device |
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 |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |
| 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 |
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 |
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 | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| Observation |
C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7 | ||||
| id |
0..1 | id | Logical id of this artifact | |||||
| meta |
0..1 | Meta | Metadata about the resource | |||||
| implicitRules |
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.
| |||||
| 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 |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」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 |
0..1 | code | usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . | |||||
| type |
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 |
0..1 | uri | The namespace for the identifier value Example General: http://www.acme.com/identifiers/patient | |||||
| value |
0..1 | string | The value that is unique Example General: 123456 | |||||
| period |
0..1 | Period | Time period when id is/was valid for use | |||||
| assigner |
0..1 | Reference(Organization) | Organization that issued id (may be just text) | |||||
| basedOn |
0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | |||||
| partOf |
0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | |||||
| status |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |||||
| focus |
0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | |||||
| encounter |
0..1 | Reference(Encounter) | Healthcare event during which this observation is made | |||||
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |||||
| issued |
0..1 | instant | Date/Time this version was made available | |||||
| performer |
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] |
C | 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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
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 |
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 |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |||||
| device |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| low |
C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant Constraints: sqty-1 | ||||
| high |
C | 0..1 | SimpleQuantity(4.0.1) | High Range, if relevant Constraints: sqty-1 | ||||
| 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 |
0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | |||||
| derivedFrom |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |||||
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |||||
 value[x] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| 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 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| 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。 | |||||
| referenceRange |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
| component:gene-list |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| 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 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| 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。 | |||||
| referenceRange |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
| component:genomic-hgvs |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std. |
| Observation.identifier.use | Base | required | IdentifierUse | 📍4.0.1 | FHIR Std. |
| Observation.identifier.type | Base | extensible | IdentifierType | 📍4.0.1 | FHIR Std. |
| Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std. |
| Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std. |
| Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std. |
| Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std. |
| Observation.referenceRange.type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std. |
| Observation.referenceRange.appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std. |
| Observation.component.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:gene-list.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:genomic-hgvs.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource |
contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
|
| dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Observation | A resource should have narrative for robust management |
text.`div`.exists()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text |
low.exists() or high.exists() or text.exists()
|
| obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present |
dataAbsentReason.empty() or value.empty()
|
| obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
|
| sqty-1 | error | Observation.referenceRange.low, Observation.referenceRange.high | The comparator is not used on a SimpleQuantity |
comparator.empty()
|
This structure is derived from Observation
Summary
Mandatory: 22 elements(3 nested mandatory elements)
Must-Support: 16 elements
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Observation |
C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7 |
| implicitRules |
0..1 | uri | A set of rules under which this content was created | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored | |
| identifier |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」組成。 | |
| use |
0..1 | code | usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . | |
| value |
0..1 | string | The value that is unique Example General: 123456 | |
| status |
1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | |
| code |
1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |
| 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 |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |
| subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |
| performer |
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] |
C | 1..1 | CodeableConcept | 基因檢測分析結果 |
| coding |
1..1 | Coding | Code defined by a terminology system | |
| code |
1..1 | code | Symbol in syntax defined by the system | |
| interpretation |
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 |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |
| device |
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 |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |
| component:All Slices |
Content/Rules for all slices | |||
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |
| component:gene-test-code |
1..1 | BackboneElement | 基因檢測項目(基因檢測代碼) | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
1..1 | CodeableConcept | Actual component result Binding: LOINC-健保NGS-基因檢測代碼值集 (required) | |
| interpretation |
1..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保NGS-基因突變類型值集 (extensible) | |
| 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 | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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) | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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 |
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 |
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) | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
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 | |
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| code |
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] |
0..1 | Range | 基因變異的精確範圍 | |
| Documentation for this format | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.identifier.use | Base | required | IdentifierUse | 📍4.0.1 | FHIR Std. |
| Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std. |
| Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std. |
| Observation.component.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:exact-start-end.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource |
contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
|
| dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Observation | A resource should have narrative for robust management |
text.`div`.exists()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present |
dataAbsentReason.empty() or value.empty()
|
| obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
|
Differential View
This structure is derived from Observation
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Observation |
Observation | |||
| identifier |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」組成。 | |
| value |
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 |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |
| subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |
| performer |
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] |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| coding |
1..1 | Coding | Code defined by a terminology system | |
| code |
1..1 | code | Symbol in syntax defined by the system | |
| interpretation |
1..* | CodeableConcept | 基因臨床判讀結果，醫師判讀結果 | |
| method |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |
| device |
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 |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |
| 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 |
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 |
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 | ||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| Observation |
C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7 | ||||
| id |
0..1 | id | Logical id of this artifact | |||||
| meta |
0..1 | Meta | Metadata about the resource | |||||
| implicitRules |
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.
| |||||
| 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 |
1..1 | Identifier | 流水號，編號由「院所代碼(10碼)＋醫事類別(2碼)+費用年月(yyyymm01，8碼)+申報類別(1送核/2補報)＋申報日期(yyyymmdd，8碼，填寫為補報時才會有這個日期)」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 |
0..1 | code | usual | official | temp | secondary | old (If known) Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known . | |||||
| type |
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 |
0..1 | uri | The namespace for the identifier value Example General: http://www.acme.com/identifiers/patient | |||||
| value |
0..1 | string | The value that is unique Example General: 123456 | |||||
| period |
0..1 | Period | Time period when id is/was valid for use | |||||
| assigner |
0..1 | Reference(Organization) | Organization that issued id (may be just text) | |||||
| basedOn |
0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | |||||
| partOf |
0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | |||||
| status |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| subject |
1..1 | Reference(病人資訊-Patient TWNGS) | 病人資訊 | |||||
| focus |
0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | |||||
| encounter |
0..1 | Reference(Encounter) | Healthcare event during which this observation is made | |||||
| effective[x] |
1..1 | dateTime | 基因檢測日期 | |||||
| issued |
0..1 | instant | Date/Time this version was made available | |||||
| performer |
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] |
C | 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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
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 |
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 |
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 |
1..1 | Reference(基因檢測檢體-Specimen TWNGS) | 基因檢測檢體類型 | |||||
| device |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| low |
C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant Constraints: sqty-1 | ||||
| high |
C | 0..1 | SimpleQuantity(4.0.1) | High Range, if relevant Constraints: sqty-1 | ||||
| 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 |
0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | |||||
| derivedFrom |
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 Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them | |||||
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | |||||
| value[x] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| 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 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| 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。 | |||||
| referenceRange |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
| component:gene-list |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
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 |
0..1 | uri | Identity of the terminology system | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| 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 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| 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。 | |||||
| referenceRange |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
| component:genomic-hgvs |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| code |
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] |
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 | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std. |
| Observation.identifier.use | Base | required | IdentifierUse | 📍4.0.1 | FHIR Std. |
| Observation.identifier.type | Base | extensible | IdentifierType | 📍4.0.1 | FHIR Std. |
| Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std. |
| Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std. |
| Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std. |
| Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std. |
| Observation.referenceRange.type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std. |
| Observation.referenceRange.appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std. |
| Observation.component.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.value[x] | Base | required | LOINC-健保NGS-基因檢測代碼值集 | 📦1.0.1 | This IG |
| Observation.component:gene-test-code.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-test-code.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:gene-list.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.value[x] | Base | required | HUGO Gene Nomenclature Committee Gene Names (HGNC) | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:gene-list.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:gene-list.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:representative-coding-hgvs.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:representative-coding-hgvs.interpretation | Base | extensible | LOINC-健保NGS-基因突變類型值集 | 📦1.0.1 | This IG |
| Observation.component:genomic-hgvs.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.value[x] | Base | required | Human Genome Variation Society (HGVS) Nomenclature | 📦3.0.0 | Genomics Reporting Implementation Guide v3.0 |
| Observation.component:genomic-hgvs.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:genomic-hgvs.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std. |
| Observation.component:exact-start-end.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource |
contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
|
| dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Observation | A resource should have narrative for robust management |
text.`div`.exists()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text |
low.exists() or high.exists() or text.exists()
|
| obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present |
dataAbsentReason.empty() or value.empty()
|
| obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
|
| sqty-1 | error | Observation.referenceRange.low, Observation.referenceRange.high | The comparator is not used on a SimpleQuantity |
comparator.empty()
|
This structure is derived from Observation
Summary
Mandatory: 22 elements(3 nested mandatory elements)
Must-Support: 16 elements
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Other representations of profile: CSV, Excel, Schematron