臺灣健保癌症用藥事前審查實作指引
1.0.1 - release

This page is part of the 臺灣癌症用藥事前審查實作指引(TWPAS IG) (v1.0.1: Release) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 1.0.4. For a full list of available versions, see the Directory of published versions

Resource Profile: 基因資訊-Observation Diagnostic TWPAS

Official URL: https://nhicore.nhi.gov.tw/pas/StructureDefinition/Observation-diagnostic-twpas Version: 1.0.1
Active as of 2024-12-12 Computable Name: ObservationDiagnosticTWPAS

此基因資訊-Observation Diagnostic TWPAS Profile說明本IG如何進一步定義FHIR的Observation Resource以呈現癌藥事前審查之基因資訊

Usage:

Formal Views of Profile Content

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

This structure is derived from Observation

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation Observation
... 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/pas/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 TWPAS) Who and/or what the observation is about
... performer S 1..1 Reference(基因檢測機構-Organization Genetic Testing TWPAS) 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 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。
.... valueQuantity Quantity S
.... valueCodeableConcept CodeableConcept S
.... 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 TWPAS) 基因檢測檢體類型
... derivedFrom S 1..1 Reference(文件參照-DocumentReference TWPAS) 基因報告
... Slices for component 0..* BackboneElement Component results
Slice: Unordered, Closed by pattern:code.coding.system
.... component:gene-test-code S 0..* BackboneElement 基因檢測代碼
..... code S 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINC-健保事前審查-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 Actual component result
..... interpretation SC 0..1 CodeableConcept 基因突變類型
Binding: LOINC-健保事前審查-基因突變類型值集 (extensible): 最新參考代碼清單請參考此檔案


pas-1: text、coding擇一填寫。
...... coding C 0..* Coding Code defined by a terminology system
....... 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 C 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。

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSetURI
Observation.methodextensibleLOINC LL4048-6
http://loinc.org/vs/LL4048-6
Observation.component:gene-test-code.codeextensibleGeneTestCode
https://nhicore.nhi.gov.tw/pas/ValueSet/gene-test-code
from this IG
Observation.component:gene-test-code.interpretationextensibleDNAChangeType
https://nhicore.nhi.gov.tw/pas/ValueSet/dna-change-type
from this IG

Constraints

IdGradePath(s)DetailsRequirements
pas-1errorObservation.component:gene-test-code.interpretationtext、coding擇一填寫。
: text.exists() xor coding.exists()

 

Other representations of profile: CSV, Excel, Schematron