# 基因資訊-Observation Diagnostic TWNHIBASE - 臺灣健保署基礎實作指引 v0.0.1

* [**Table of Contents**](toc.md)
* [**Artifacts Summary**](artifacts.md)
* **基因資訊-Observation Diagnostic TWNHIBASE**

## 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](StructureDefinition-Claim-twnhibase.md)
* Examples for this Profile: [Observation/obs-diagnostic-min](Observation-obs-diagnostic-min.md)

You can also check for [usages in the FHIR IG Statistics](https://packages2.fhir.org/xig/tw.gov.mohw.nhi.base|current/StructureDefinition/Observation-diagnostic-twnhibase)

### Formal Views of Profile Content

 [Description of Profiles, Differentials, Snapshots and how the different presentations work](http://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#structure-definitions). 

 

Other representations of profile: [CSV](StructureDefinition-Observation-diagnostic-twnhibase.csv), [Excel](StructureDefinition-Observation-diagnostic-twnhibase.xlsx), [Schematron](StructureDefinition-Observation-diagnostic-twnhibase.sch) 



## Resource Content

```json
{
  "resourceType" : "StructureDefinition",
  "id" : "Observation-diagnostic-twnhibase",
  "url" : "https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase",
  "version" : "0.0.1",
  "name" : "ObservationDiagnosticTWNHIBASE",
  "title" : "基因資訊-Observation Diagnostic TWNHIBASE",
  "status" : "draft",
  "date" : "2025-10-29T03:09:05+00:00",
  "publisher" : "衛生福利部中央健康保險署",
  "contact" : [
    {
      "name" : "衛生福利部中央健康保險署",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nhi.gov.tw"
        }
      ]
    }
  ],
  "description" : "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",
  "fhirVersion" : "4.0.1",
  "mapping" : [
    {
      "identity" : "workflow",
      "uri" : "http://hl7.org/fhir/workflow",
      "name" : "Workflow Pattern"
    },
    {
      "identity" : "sct-concept",
      "uri" : "http://snomed.info/conceptdomain",
      "name" : "SNOMED CT Concept Domain Binding"
    },
    {
      "identity" : "v2",
      "uri" : "http://hl7.org/v2",
      "name" : "HL7 v2 Mapping"
    },
    {
      "identity" : "rim",
      "uri" : "http://hl7.org/v3",
      "name" : "RIM Mapping"
    },
    {
      "identity" : "w5",
      "uri" : "http://hl7.org/fhir/fivews",
      "name" : "FiveWs Pattern Mapping"
    },
    {
      "identity" : "sct-attr",
      "uri" : "http://snomed.org/attributebinding",
      "name" : "SNOMED CT Attribute Binding"
    }
  ],
  "kind" : "resource",
  "abstract" : false,
  "type" : "Observation",
  "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Observation",
  "derivation" : "constraint",
  "differential" : {
    "element" : [
      {
        "id" : "Observation",
        "path" : "Observation"
      },
      {
        "id" : "Observation.meta",
        "path" : "Observation.meta",
        "min" : 1
      },
      {
        "id" : "Observation.meta.profile",
        "path" : "Observation.meta.profile",
        "min" : 1,
        "max" : "1",
        "patternCanonical" : "https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase"
      },
      {
        "id" : "Observation.category",
        "path" : "Observation.category",
        "short" : "因FHIR設計而需必填",
        "min" : 1,
        "max" : "1"
      },
      {
        "id" : "Observation.category.coding",
        "path" : "Observation.category.coding",
        "min" : 1,
        "max" : "1"
      },
      {
        "id" : "Observation.category.coding.system",
        "path" : "Observation.category.coding.system",
        "patternUri" : "https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type"
      },
      {
        "id" : "Observation.category.coding.code",
        "path" : "Observation.category.coding.code",
        "patternCode" : "geneInfo"
      },
      {
        "id" : "Observation.code.coding",
        "path" : "Observation.code.coding",
        "min" : 1,
        "max" : "1"
      },
      {
        "id" : "Observation.code.coding.system",
        "path" : "Observation.code.coding.system",
        "patternUri" : "http://loinc.org"
      },
      {
        "id" : "Observation.code.coding.code",
        "path" : "Observation.code.coding.code",
        "min" : 1,
        "patternCode" : "69548-6",
        "mustSupport" : true
      },
      {
        "id" : "Observation.subject",
        "path" : "Observation.subject",
        "min" : 1,
        "type" : [
          {
            "code" : "Reference",
            "targetProfile" : [
              "https://nhicore.nhi.gov.tw/base/StructureDefinition/Patient-twnhibase"
            ]
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.effective[x]",
        "path" : "Observation.effective[x]",
        "short" : "基因檢測日期",
        "min" : 1,
        "type" : [
          {
            "code" : "dateTime"
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.performer",
        "path" : "Observation.performer",
        "short" : "基因檢測機構，衛福部公告名冊或LDTs核定函上之「案件編號」。",
        "min" : 1,
        "max" : "1",
        "type" : [
          {
            "code" : "Reference",
            "targetProfile" : [
              "https://nhicore.nhi.gov.tw/base/StructureDefinition/Organization-gene-twnhibase"
            ]
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.value[x]",
        "path" : "Observation.value[x]",
        "short" : "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。",
        "min" : 1,
        "type" : [
          {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-type-must-support",
                "valueBoolean" : true
              }
            ],
            "code" : "string"
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.interpretation",
        "path" : "Observation.interpretation",
        "short" : "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。",
        "max" : "1",
        "mustSupport" : true
      },
      {
        "id" : "Observation.method",
        "path" : "Observation.method",
        "short" : "基因檢測方法",
        "min" : 1,
        "mustSupport" : true,
        "binding" : {
          "strength" : "extensible",
          "valueSet" : "http://loinc.org/vs/LL4048-6"
        }
      },
      {
        "id" : "Observation.specimen",
        "path" : "Observation.specimen",
        "short" : "基因檢測檢體類型",
        "min" : 1,
        "type" : [
          {
            "code" : "Reference",
            "targetProfile" : [
              "https://nhicore.nhi.gov.tw/base/StructureDefinition/Specimen-twnhibase"
            ]
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.derivedFrom",
        "path" : "Observation.derivedFrom",
        "short" : "基因報告",
        "type" : [
          {
            "code" : "Reference",
            "targetProfile" : [
              "https://nhicore.nhi.gov.tw/base/StructureDefinition/DocumentReference-twnhibase"
            ]
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.component",
        "path" : "Observation.component",
        "slicing" : {
          "discriminator" : [
            {
              "type" : "pattern",
              "path" : "code.coding.system"
            }
          ],
          "rules" : "closed"
        },
        "min" : 1
      },
      {
        "id" : "Observation.component:gene-test-code",
        "path" : "Observation.component",
        "sliceName" : "gene-test-code",
        "short" : "基因檢測代碼",
        "min" : 1,
        "max" : "*",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:gene-test-code.code",
        "path" : "Observation.component.code",
        "short" : "基因檢測代碼",
        "mustSupport" : true,
        "binding" : {
          "strength" : "extensible",
          "description" : "最新參考代碼清單請參考[此檔案](https://www.nhi.gov.tw/ch/dl-75853-85b695304c2c447a94a55a3788019ccf-1.ods)。",
          "valueSet" : "https://nhicore.nhi.gov.tw/base/ValueSet/gene-test-code"
        }
      },
      {
        "id" : "Observation.component:gene-test-code.code.coding",
        "path" : "Observation.component.code.coding",
        "min" : 1,
        "max" : "1"
      },
      {
        "id" : "Observation.component:gene-test-code.code.coding.system",
        "path" : "Observation.component.code.coding.system",
        "min" : 1,
        "patternUri" : "http://loinc.org"
      },
      {
        "id" : "Observation.component:gene-test-code.value[x]",
        "path" : "Observation.component.value[x]",
        "short" : "基因檢測實際結果",
        "min" : 1,
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:gene-test-code.interpretation",
        "path" : "Observation.component.interpretation",
        "short" : "基因突變類型",
        "definition" : "Type of DNA change observed. Convenience property for variants with exact breakpoints, required otherwise.",
        "max" : "1",
        "mustSupport" : true,
        "binding" : {
          "strength" : "extensible",
          "description" : "最新參考代碼清單請參考[此檔案](https://www.nhi.gov.tw/ch/dl-75853-85b695304c2c447a94a55a3788019ccf-1.ods)。",
          "valueSet" : "https://nhicore.nhi.gov.tw/base/ValueSet/dna-change-type"
        }
      },
      {
        "id" : "Observation.component:gene-test-code.interpretation.coding.code",
        "path" : "Observation.component.interpretation.coding.code",
        "short" : "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",
        "min" : 1
      },
      {
        "id" : "Observation.component:gene-test-code.interpretation.text",
        "path" : "Observation.component.interpretation.text",
        "short" : "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。"
      }
    ]
  }
}

```
