臺灣健保署基礎實作指引
0.0.1 - ci-build

臺灣健保署基礎實作指引, 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 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/base/ and changes regularly. See the Directory of published versions

## Resource Profile: 基因資訊-Observation Diagnostic TWNHIBASE

Official URL: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase | Version: 0.0.1
Draft as of 2025-10-29 | Computable Name: ObservationDiagnosticTWNHIBASE

此基因資訊-Observation Diagnostic TWNHIBASE Profile說明本IG如何進一步定義FHIR的Observation Resource以呈現健保署基礎之基因資訊

Usages:

- Refer to this Profile: 事前審查-Claim TWNHIBASE
- Examples for this Profile: Observation/obs-diagnostic-min

You can also check for usages in the FHIR IG Statistics

### Formal Views of Profile Content

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

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

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
meta | Σ | 1..1 | Meta | Metadata about the resource
profile | Σ | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填 Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
code | Σ | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
code | S Σ | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
subject | S Σ | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
effective[x] | S Σ | 1..1 | dateTime | 基因檢測日期
performer | S Σ | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S Σ C | 1..1 | string S | 基因檢測分析結果。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。
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
derivedFrom | S Σ | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:All Slices |  |  |  | Content/Rules for all slices
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-test-code | S Σ | 1..* | BackboneElement | 基因檢測代碼
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | S Σ | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
value[x] | S Σ | 1..1 |  | 基因檢測實際結果
valueQuantity |  |  | Quantity |
valueCodeableConcept |  |  | CodeableConcept |
valueString |  |  | string |
valueBoolean |  |  | boolean |
valueInteger |  |  | integer |
valueRange |  |  | Range |
valueRatio |  |  | Ratio |
valueSampledData |  |  | SampledData |
valueTime |  |  | time |
valueDateTime |  |  | dateTime |
valuePeriod |  |  | Period |
interpretation | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
text | Σ | 0..1 | string | 基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
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.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:gene-test-code.​code | Base | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | This IG
Observation.component:gene-test-code.​interpretation | Base | extensible | LOINC-健保署-基因突變類型值集 | 📦0.0.1 | This IG

#### Constraints

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

This structure is derived from Observation

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation |  | 0..* | Observation | Measurements and simple assertions
meta |  | 1..1 | Meta | Metadata about the resource
profile |  | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
code |  | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
code |  |  |  |
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
code | S | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
subject | S | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
effective[x] | S | 1..1 | dateTime | 基因檢測日期
performer | S | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S | 1..1 | string S | 基因檢測分析結果。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。
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
derivedFrom | S | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component |  | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:gene-test-code | S | 1..* | BackboneElement | 基因檢測代碼
code | S | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
value[x] | S | 1..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | 基因檢測實際結果
interpretation | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-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。
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
Observation.component:gene-test-code.​code | Base | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | This IG
Observation.component:gene-test-code.​interpretation | Base | extensible | LOINC-健保署-基因突變類型值集 | 📦0.0.1 | This IG

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
id | Σ | 0..1 | id | Logical id of this artifact
meta | Σ | 1..1 | Meta | Metadata about the resource
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
versionId | Σ | 0..1 | id | Version specific identifier
lastUpdated | Σ | 0..1 | instant | When the resource version last changed
source | Σ | 0..1 | uri | Identifies where the resource comes from
profile | Σ | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
security | Σ | 0..* | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
tag | Σ | 0..* | Coding | Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones".
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
language |  | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
Additional Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
identifier | Σ | 0..* | Identifier | Business Identifier for observation
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填 Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
version | Σ | 0..1 | string | Version of the system - if relevant
code | S Σ | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
subject | S Σ | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made
effective[x] | S Σ | 1..1 | dateTime | 基因檢測日期
issued | Σ | 0..1 | instant | Date/Time this version was made available
performer | S Σ | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S Σ C | 1..1 | string S | 基因檢測分析結果。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。
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note |  | 0..* | Annotation | Comments about the observation
bodySite |  | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
device |  | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation Constraints: obs-3
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
low | C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | High Range, if relevant
type |  | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo |  | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age |  | 0..1 | Range | Applicable age range, if relevant
text |  | 0..1 | string | Text based reference range in an observation
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group
derivedFrom | S Σ | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:All Slices |  |  |  | Content/Rules for all slices
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x] | Σ | 0..1 |  | Actual component result
valueQuantity |  |  | Quantity |
valueCodeableConcept |  |  | CodeableConcept |
valueString |  |  | string |
valueBoolean |  |  | boolean |
valueInteger |  |  | integer |
valueRange |  |  | Range |
valueRatio |  |  | Ratio |
valueSampledData |  |  | SampledData |
valueTime |  |  | time |
valueDateTime |  |  | dateTime |
valuePeriod |  |  | Period |
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation |  | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange |  | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result
component:gene-test-code | S Σ | 1..* | BackboneElement | 基因檢測代碼
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | S Σ | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 0..1 | code | Symbol in syntax defined by the system
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
value[x] | S Σ | 1..1 |  | 基因檢測實際結果
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 | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 0..* | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 1..1 | code | LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | 基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange |  | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.meta.security | Base | extensible | SecurityLabels | 📍4.0.1 | FHIR Std.
Observation.meta.tag | Base | example | Common Tags | 📍4.0.1 | FHIR Std.
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
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 | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | 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-健保署-基因突變類型值集 | 📦0.0.1 | This IG

#### Constraints

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

This structure is derived from Observation

Summary

Mandatory: 17 elements(1 nested mandatory element)
Must-Support: 13 elements

Structures

This structure refers to these other structures:

- 病人資訊-Patient TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Patient-twnhibase)
- 基因檢測機構-Organization Gene TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Organization-gene-twnhibase)
- 基因檢測檢體-Specimen TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Specimen-twnhibase)
- 文件參照-DocumentReference TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/DocumentReference-twnhibase)

Slices

This structure defines the following Slices:

- The element 1 is sliced based on the value of Observation.component (Closed)

Key Elements View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
meta | Σ | 1..1 | Meta | Metadata about the resource
profile | Σ | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填 Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
code | Σ | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
code | S Σ | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
subject | S Σ | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
effective[x] | S Σ | 1..1 | dateTime | 基因檢測日期
performer | S Σ | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S Σ C | 1..1 | string S | 基因檢測分析結果。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。
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
derivedFrom | S Σ | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:All Slices |  |  |  | Content/Rules for all slices
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-test-code | S Σ | 1..* | BackboneElement | 基因檢測代碼
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | S Σ | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
coding | Σ | 1..1 | Coding | Code defined by a terminology system
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
value[x] | S Σ | 1..1 |  | 基因檢測實際結果
valueQuantity |  |  | Quantity |
valueCodeableConcept |  |  | CodeableConcept |
valueString |  |  | string |
valueBoolean |  |  | boolean |
valueInteger |  |  | integer |
valueRange |  |  | Range |
valueRatio |  |  | Ratio |
valueSampledData |  |  | SampledData |
valueTime |  |  | time |
valueDateTime |  |  | dateTime |
valuePeriod |  |  | Period |
interpretation | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
text | Σ | 0..1 | string | 基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
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.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:gene-test-code.​code | Base | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | This IG
Observation.component:gene-test-code.​interpretation | Base | extensible | LOINC-健保署-基因突變類型值集 | 📦0.0.1 | This IG

#### Constraints

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

Differential View

This structure is derived from Observation

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation |  | 0..* | Observation | Measurements and simple assertions
meta |  | 1..1 | Meta | Metadata about the resource
profile |  | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
code |  | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
code |  |  |  |
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
code | S | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
subject | S | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
effective[x] | S | 1..1 | dateTime | 基因檢測日期
performer | S | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S | 1..1 | string S | 基因檢測分析結果。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。
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
derivedFrom | S | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component |  | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:gene-test-code | S | 1..* | BackboneElement | 基因檢測代碼
code | S | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
coding |  | 1..1 | Coding | Code defined by a terminology system
system |  | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
value[x] | S | 1..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | 基因檢測實際結果
interpretation | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-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。
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
Observation.component:gene-test-code.​code | Base | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | This IG
Observation.component:gene-test-code.​interpretation | Base | extensible | LOINC-健保署-基因突變類型值集 | 📦0.0.1 | This IG

Snapshot View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
id | Σ | 0..1 | id | Logical id of this artifact
meta | Σ | 1..1 | Meta | Metadata about the resource
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
versionId | Σ | 0..1 | id | Version specific identifier
lastUpdated | Σ | 0..1 | instant | When the resource version last changed
source | Σ | 0..1 | uri | Identifies where the resource comes from
profile | Σ | 1..1 | canonical(StructureDefinition) | Profiles this resource claims to conform to Required Pattern: https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase
security | Σ | 0..* | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
tag | Σ | 0..* | Coding | Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones".
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
language |  | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
Additional Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
identifier | Σ | 0..* | Identifier | Business Identifier for observation
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category |  | 1..1 | CodeableConcept | 因FHIR設計而需必填 Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 0..1 | code | Symbol in syntax defined by the system Required Pattern: geneInfo
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
version | Σ | 0..1 | string | Version of the system - if relevant
code | S Σ | 1..1 | code | Symbol in syntax defined by the system Required Pattern: 69548-6
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
subject | S Σ | 1..1 | Reference(病人資訊-Patient TWNHIBASE) | Who and/or what the observation is about
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made
effective[x] | S Σ | 1..1 | dateTime | 基因檢測日期
issued | Σ | 0..1 | instant | Date/Time this version was made available
performer | S Σ | 1..1 | Reference(基因檢測機構-Organization Gene TWNHIBASE) | 基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。
value[x] | S Σ C | 1..1 | string S | 基因檢測分析結果。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。
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation | S | 0..1 | CodeableConcept | 基因臨床判讀結果，醫師判讀結果。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。 Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note |  | 0..* | Annotation | Comments about the observation
bodySite |  | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method | S | 1..1 | CodeableConcept | 基因檢測方法 Binding: LOINC Answer List LL4048-6 (extensible)
specimen | S | 1..1 | Reference(基因檢測檢體-Specimen TWNHIBASE) | 基因檢測檢體類型
device |  | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation Constraints: obs-3
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
low | C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | High Range, if relevant
type |  | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo |  | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age |  | 0..1 | Range | Applicable age range, if relevant
text |  | 0..1 | string | Text based reference range in an observation
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group
derivedFrom | S Σ | 0..* | Reference(文件參照-DocumentReference TWNHIBASE) | 基因報告
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Closed by pattern:code.coding.system
component:All Slices |  |  |  | Content/Rules for all slices
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x] | Σ | 0..1 |  | Actual component result
valueQuantity |  |  | Quantity |
valueCodeableConcept |  |  | CodeableConcept |
valueString |  |  | string |
valueBoolean |  |  | boolean |
valueInteger |  |  | integer |
valueRange |  |  | Range |
valueRatio |  |  | Ratio |
valueSampledData |  |  | SampledData |
valueTime |  |  | time |
valueDateTime |  |  | dateTime |
valuePeriod |  |  | Period |
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation |  | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange |  | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result
component:gene-test-code | S Σ | 1..* | BackboneElement | 基因檢測代碼
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | S Σ | 1..1 | CodeableConcept | 基因檢測代碼 Binding: LOINC-健保署-基因檢測代碼值集 (extensible): 最新參考代碼清單請參考此檔案。
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 1..1 | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://loinc.org
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 0..1 | code | Symbol in syntax defined by the system
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | Plain text representation of the concept
value[x] | S Σ | 1..1 |  | 基因檢測實際結果
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 | S | 0..1 | CodeableConcept | 基因突變類型 Binding: LOINC-健保署-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案。
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
coding | Σ | 0..* | Coding | Code defined by a terminology system
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
system | Σ | 0..1 | uri | Identity of the terminology system
version | Σ | 0..1 | string | Version of the system - if relevant
code | Σ | 1..1 | code | LA6692-3: Deletion | LA6686-5: Duplication | LA6687-3: Insertion | LA6688-1: Insertion/Deletion | LA6689-9: Inversion | LA6690-7: Substitution | 101397-8: Copy number variation analysis Sequencing Doc (Bld/Tiss) | 81695-9: MSI Ca spec-Imp | 94077-5: TMB Tumor-Imp | O55-2: Delins
display | Σ | 0..1 | string | Representation defined by the system
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user
text | Σ | 0..1 | string | 基因突變類型。若無合適代碼，可使用此欄位以文字呈現。請勿將醫事機構名稱、病人及醫師姓名等資訊列入結果中上傳，且不得包含HTML或XML等語法。
referenceRange |  | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.meta.security | Base | extensible | SecurityLabels | 📍4.0.1 | FHIR Std.
Observation.meta.tag | Base | example | Common Tags | 📍4.0.1 | FHIR Std.
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | extensible | LOINC Answer Codes for LL4048-6 | ∅ | unknown?
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 | extensible | LOINC-健保署-基因檢測代碼值集 | 📦0.0.1 | 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-健保署-基因突變類型值集 | 📦0.0.1 | This IG

#### Constraints

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

This structure is derived from Observation

Summary

Mandatory: 17 elements(1 nested mandatory element)
Must-Support: 13 elements

Structures

This structure refers to these other structures:

- 病人資訊-Patient TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Patient-twnhibase)
- 基因檢測機構-Organization Gene TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Organization-gene-twnhibase)
- 基因檢測檢體-Specimen TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/Specimen-twnhibase)
- 文件參照-DocumentReference TWNHIBASE (https://nhicore.nhi.gov.tw/base/StructureDefinition/DocumentReference-twnhibase)

Slices

This structure defines the following Slices:

- The element 1 is sliced based on the value of Observation.component (Closed)

Other representations of profile: CSV, Excel, Schematron