Merge pull request #149 from NHSDigital/Issue-2660

Corrections to examples and profiles
NHSDigital · Jan 3, 2025 · 560e815 · 560e815
2 parents 4006b1d + 9677511
commit 560e815
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Showing 29 changed files with 299 additions and 105 deletions.
diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Example.json
@@ -273,7 +273,7 @@
         ],
         "supportingInfo": [
           {
-            "reference": "Observation/Observation-DiseaseStatus-Example"
+            "reference": "Condition/Condition-MonogenicHearingLoss-Example"
           },
           {
             "reference": "Observation/Observation-GenomicEthnicity-Example"
@@ -335,11 +335,28 @@
       }
     },
     {
-      "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example",
+      "fullUrl": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example",
       "resource": {
-        "resourceType": "Observation",
-        "id": "Observation-DiseaseStatus-Example",
-        "status": "final",
+        "resourceType": "Condition",
+        "id": "Condition-MonogenicHearingLoss-Example",
+        "clinicalStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-clinical",
+              "code": "inactive",
+              "display": "inactive"
+            }
+          ]
+        },
+        "verificationStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status",
+              "code": "provisional",
+              "display": "Provisional"
+            }
+          ]
+        },
         "code": {
           "coding": [
             {
@@ -356,21 +373,11 @@
             "system": "https://fhir.nhs.uk/Id/nhs-number",
             "value": "9449307873"
           }
-        },
-        "effectiveDateTime": "2023-08-05",
-        "valueCodeableConcept": {
-          "coding": [
-            {
-              "system": "http://snomed.info/sct",
-              "code": "103310001",
-              "display": "Patient not affected"
-            }
-          ]
         }
       },
       "request": {
         "method": "POST",
-        "url": "Observation"
+        "url": "Condition"
       }
     },
     {

diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json
@@ -298,7 +298,7 @@
             "reference": "Observation/Observation-GenomicEthnicity-Example"
           },
           {
-            "reference": "Observation/Observation-DiseaseStatus-Example"
+            "reference": "Condition/Condition-MonogenicHearingLoss-Example"
           },
           {
             "reference": "Observation/Observation-NoPregnancy-Example"
@@ -362,11 +362,28 @@
       }
     },
     {
-      "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example",
+      "fullUrl": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example",
       "resource": {
-        "resourceType": "Observation",
-        "id": "Observation-DiseaseStatus-Example",
-        "status": "final",
+        "resourceType": "Condition",
+        "id": "Condition-MonogenicHearingLoss-Example",
+        "clinicalStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-clinical",
+              "code": "inactive",
+              "display": "inactive"
+            }
+          ]
+        },
+        "verificationStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status",
+              "code": "provisional",
+              "display": "Provisional"
+            }
+          ]
+        },
         "code": {
           "coding": [
             {
@@ -383,21 +400,11 @@
             "system": "https://fhir.nhs.uk/Id/nhs-number",
             "value": "9449307559"
           }
-        },
-        "effectiveDateTime": "2023-09-06",
-        "valueCodeableConcept": {
-          "coding": [
-            {
-              "system": "http://snomed.info/sct",
-              "code": "103310001",
-              "display": "Patient not affected"
-            }
-          ]
         }
       },
       "request": {
         "method": "POST",
-        "url": "Observation"
+        "url": "Condition"
       }
     },
     {

diff --git a/Bundle/Bundle-WGSTestOrderForm-Example.json b/Bundle/Bundle-WGSTestOrderForm-Example.json
@@ -267,7 +267,7 @@
         ],
         "supportingInfo": [
           {
-            "reference": "Observation/Observation-DiseaseStatus-Example"
+            "reference": "Condition/Condition-MonogenicHearingLoss-Example"
           },
           {
             "reference": "Observation/Observation-GenomicEthnicity-Example"
@@ -344,17 +344,34 @@
       }
     },
     {
-      "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example",
+      "fullUrl": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example",
       "resource": {
-        "resourceType": "Observation",
-        "id": "Observation-DiseaseStatus-Example",
-        "status": "final",
+        "resourceType": "Condition",
+        "id": "Condition-MonogenicHearingLoss-Example",
+        "clinicalStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-clinical",
+              "code": "inactive",
+              "display": "inactive"
+            }
+          ]
+        },
+        "verificationStatus": {
+          "coding": [
+            {
+              "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status",
+              "code": "provisional",
+              "display": "Provisional"
+            }
+          ]
+        },
         "code": {
           "coding": [
             {
               "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
-              "code": "R193.4",
-              "display": "Cystic renal disease",
+              "code": "R67.2",
+              "display": "Monogenic hearing loss",
               "version": "7"
             }
           ]
@@ -365,21 +382,11 @@
             "system": "https://fhir.nhs.uk/Id/nhs-number",
             "value": "9449307946"
           }
-        },
-        "effectiveDateTime": "2023-08-05",
-        "valueCodeableConcept": {
-          "coding": [
-            {
-              "system": "http://snomed.info/sct",
-              "code": "103310001",
-              "display": "Patient not affected"
-            }
-          ]
         }
       },
       "request": {
         "method": "POST",
-        "url": "Observation"
+        "url": "Condition"
       }
     },
     {

diff --git a/CapabilityStatement/CapabilityStatement-genomics-application.json b/CapabilityStatement/CapabilityStatement-genomics-application.json
@@ -1442,7 +1442,7 @@
         },
         {
           "type": "RelatedPerson",
-          "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-RelatedPerson-Genomics",
+          "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-RelatedPerson",
           "documentation": "Endpoints for interacting with RelatedPerson resources",
           "interaction": [
             {
@@ -1839,7 +1839,7 @@
         },
         {
           "type": "Composition",
-          "profile": "http://hl7.org/fhir/StructureDefinition/Composition",
+          "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Composition",
           "documentation": "For validation of Composition resources and allowing searches via chaining from the Bundle endpoint",
           "interaction": [
             {

diff --git a/CapabilityStatement/CapabilityStatement-genomics-requirements.json b/CapabilityStatement/CapabilityStatement-genomics-requirements.json
@@ -41,7 +41,7 @@
         },
         {
           "type": "Composition",
-          "profile": "http://hl7.org/fhir/StructureDefinition/Composition"
+          "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Composition"
         },
         {
           "type": "DocumentReference",

diff --git a/Condition/Condition-MonogenicHearingLoss-Example.json b/Condition/Condition-MonogenicHearingLoss-Example.json
@@ -0,0 +1,39 @@
+{
+  "resourceType": "Condition",
+  "id": "Condition-MonogenicHearingLoss-Example",
+  "clinicalStatus": {
+    "coding": [
+      {
+        "system": "http://terminology.hl7.org/CodeSystem/condition-clinical",
+        "code": "inactive",
+        "display": "inactive"
+      }
+    ]
+  },
+  "verificationStatus": {
+    "coding": [
+      {
+        "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status",
+        "code": "provisional",
+        "display": "Provisional"
+      }
+    ]
+  },
+  "code": {
+    "coding": [
+      {
+        "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
+        "code": "R67.2",
+        "display": "Monogenic hearing loss",
+        "version": "7"
+      }
+    ]
+  },
+  "subject": {
+    "reference": "Patient/Patient-MeirLieberman-Example",
+    "identifier": {
+      "system": "https://fhir.nhs.uk/Id/nhs-number",
+      "value": "9449307873"
+    }
+  }
+}
diff --git a/Observation/Observation-DiseaseStatus-Example.json b/Observation/Observation-DiseaseStatus-Example.json