From f8399e3d3658230bf742d29809845f5962f68109 Mon Sep 17 00:00:00 2001
From: Kazeem Hamzat <kazeem.hamzat@nhs.net>
Date: Mon, 29 Jun 2026 13:57:19 +0100
Subject: [PATCH 1/3] Representing Negative Findings

Representing Negative Findings
---
 ...rvation-SLC52A2-VariantAbsent-Example.json | 56 +++++++++++++++++++
 ...vation-SeizurePhenotypeAbsent-Example.json | 43 ++++++++++++++
 2 files changed, 99 insertions(+)
 create mode 100644 Observation/Observation-SLC52A2-VariantAbsent-Example.json
 create mode 100644 Observation/Observation-SeizurePhenotypeAbsent-Example.json

diff --git a/Observation/Observation-SLC52A2-VariantAbsent-Example.json b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
new file mode 100644
index 00000000..752adff0
--- /dev/null
+++ b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
@@ -0,0 +1,56 @@
+{
+ "resourceType": "Observation",
+ "id": "Observation-SLC52A2-VariantAbsent-Example",
+ "status": "final",
+ "category": [
+  {
+   "coding": [
+    {
+     "system": "http://terminology.hl7.org/CodeSystem/observation-category",
+     "code": "laboratory"
+    }
+   ]
+  },
+  {
+   "coding": [
+    {
+     "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
+     "code": "GE"
+    }
+   ]
+  }
+ ],
+ "code": {
+  "text": "SLC52A2 variant assessment"
+ },
+ "subject": {
+  "reference": "Patient/Patient-PheobeSmitham-Example"
+ },
+ "effectiveDateTime": "2023-09-16",
+ "valueCodeableConcept": {
+  "coding": [
+   {
+    "system": "http://snomed.info/sct",
+    "code": "260415000",
+    "display": "Not detected"
+   },
+   {
+    "system": "http://loinc.org",
+    "code": "LA9634-2",
+    "display": "Absent"
+   }
+  ],
+  "text": "Variant not detected"
+ },
+ "method": [
+  {
+   "coding": [
+    {
+     "system": "http://snomed.info/sct",
+     "code": "117040002",
+     "display": "Nucleic acid sequencing"
+    }
+   ]
+  }
+ ]
+}
\ No newline at end of file
diff --git a/Observation/Observation-SeizurePhenotypeAbsent-Example.json b/Observation/Observation-SeizurePhenotypeAbsent-Example.json
new file mode 100644
index 00000000..cd653a2a
--- /dev/null
+++ b/Observation/Observation-SeizurePhenotypeAbsent-Example.json
@@ -0,0 +1,43 @@
+{
+ "resourceType": "Observation",
+ "id": "Observation-SeizurePhenotypeAbsent-Example",
+ "status": "final",
+ "category": [
+  {
+   "coding": [
+    {
+     "system": "http://terminology.hl7.org/CodeSystem/observation-category",
+     "code": "exam"
+    }
+   ]
+  }
+ ],
+ "code": {
+  "coding": [
+   {
+    "system": "http://purl.obolibrary.org/obo/hp.owl",
+    "code": "HP:0001250",
+    "display": "Seizure"
+   }
+  ]
+ },
+ "subject": {
+  "reference": "Patient/Patient-PheobeSmitham-Example"
+ },
+ "effectiveDateTime": "2023-09-16",
+ "valueCodeableConcept": {
+  "coding": [
+   {
+    "system": "http://snomed.info/sct",
+    "code": "260415000",
+    "display": "Not detected"
+   },
+   {
+    "system": "http://loinc.org",
+    "code": "LA9634-2",
+    "display": "Absent"
+   }
+  ],
+  "text": "Phenotype not present"
+ }
+}
\ No newline at end of file

From c5736abffb1d769eda9f8b5b4c5b21cc15397869 Mon Sep 17 00:00:00 2001
From: Kazeem Hamzat <kazeem.hamzat@nhs.net>
Date: Mon, 29 Jun 2026 14:26:55 +0100
Subject: [PATCH 2/3] Updated Observation.code

Updated Observation.code
---
 .../Observation-SLC52A2-VariantAbsent-Example.json   | 12 +++++++++++-
 .../Observation-SeizurePhenotypeAbsent-Example.json  |  3 ++-
 2 files changed, 13 insertions(+), 2 deletions(-)

diff --git a/Observation/Observation-SLC52A2-VariantAbsent-Example.json b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
index 752adff0..8778abe0 100644
--- a/Observation/Observation-SLC52A2-VariantAbsent-Example.json
+++ b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
@@ -21,7 +21,17 @@
   }
  ],
  "code": {
-  "text": "SLC52A2 variant assessment"
+  "coding": [
+   {
+    "system": "http://loinc.org",
+    "code": "69548-6"
+   },
+   {
+    "system": "http://snomed.info/sct",
+    "code": "414755005",
+    "display": "Molecular, genetic AND/OR cellular observable"
+   }
+  ]
  },
  "subject": {
   "reference": "Patient/Patient-PheobeSmitham-Example"
diff --git a/Observation/Observation-SeizurePhenotypeAbsent-Example.json b/Observation/Observation-SeizurePhenotypeAbsent-Example.json
index cd653a2a..90cdc429 100644
--- a/Observation/Observation-SeizurePhenotypeAbsent-Example.json
+++ b/Observation/Observation-SeizurePhenotypeAbsent-Example.json
@@ -15,7 +15,8 @@
  "code": {
   "coding": [
    {
-    "system": "http://purl.obolibrary.org/obo/hp.owl",
+    "system": "http://human-phenotype-ontology.org",
+    "version": "20221005",
     "code": "HP:0001250",
     "display": "Seizure"
    }

From f15064c264bb3581ba8b494e593974319b250046 Mon Sep 17 00:00:00 2001
From: Kazeem Hamzat <kazeem.hamzat@nhs.net>
Date: Mon, 29 Jun 2026 15:31:22 +0100
Subject: [PATCH 3/3] Observation-SLC52A2-VariantAbsent-Example

Update Observation-SLC52A2-VariantAbsent-Example
---
 Observation/Observation-SLC52A2-VariantAbsent-Example.json | 3 ++-
 1 file changed, 2 insertions(+), 1 deletion(-)

diff --git a/Observation/Observation-SLC52A2-VariantAbsent-Example.json b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
index 8778abe0..4ef901f7 100644
--- a/Observation/Observation-SLC52A2-VariantAbsent-Example.json
+++ b/Observation/Observation-SLC52A2-VariantAbsent-Example.json
@@ -24,7 +24,8 @@
   "coding": [
    {
     "system": "http://loinc.org",
-    "code": "69548-6"
+    "code": "69548-6",
+    "display": "Genetic variant assessment"
    },
    {
     "system": "http://snomed.info/sct",