From f8399e3d3658230bf742d29809845f5962f68109 Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Mon, 29 Jun 2026 13:57:19 +0100 Subject: [PATCH 1/4] 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 0000000..752adff --- /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 0000000..cd653a2 --- /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 Date: Mon, 29 Jun 2026 14:26:55 +0100 Subject: [PATCH 2/4] 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 752adff..8778abe 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 cd653a2..90cdc42 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 Date: Mon, 29 Jun 2026 15:31:22 +0100 Subject: [PATCH 3/4] 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 8778abe..4ef901f 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", From 59b4fdb069d736f09d72ce244daa748da4b95ebd Mon Sep 17 00:00:00 2001 From: Omar Khan Date: Thu, 2 Jul 2026 08:15:03 +0100 Subject: [PATCH 4/4] Changes to Observations Changed to match new guidance on coding of negative results --- ...onWGSScenario3-FetusAsProband-Example.json | 40 +++++++++++-- ...rio4-ProbandWithMultipleFetus-Example.json | 50 ++++++++++++++-- ...cenario5-ProductsofConception-Example.json | 30 +++++++++- ...estOrderForm-CancerSolidTumor-Example.json | 10 +++- .../Bundle-NonWGSTestOrderForm-Example.json | 10 +++- ...GSTestOrderForm-FetalScenario-Example.json | 40 +++++++++++-- ...onWGSTestOrderForm-Reanalysis-Example.json | 10 +++- Bundle/Bundle-WGSTestOrderForm-Example.json | 60 +++++++++++++++++-- ...Observation-AutisticBehaviour-Example.json | 10 +++- ...ion-DelayedSpeechLanguageDevt-Example.json | 10 +++- .../Observation-EnlargedKidney-Example.json | 10 +++- .../Observation-HepaticCysts-Example.json | 10 +++- ...bservation-HistoryOfFetalLoss-Example.json | 10 +++- .../Observation-Immunodeficiency-Example.json | 10 +++- ...on-IntellectualDisabilityMild-Example.json | 10 +++- ...ntellectualDisabilityProfound-Example.json | 10 +++- ...bservation-MultipleRenalCysts-Example.json | 10 +++- .../Observation-Nephronophthisis-Example.json | 10 +++- ...oFirstTrimesterFetalAnomalies-Example.json | 10 +++- ...SecondTrimesterFetalAnomalies-Example.json | 10 +++- ...rvation-NonConsanguinousUnion-Example.json | 10 +++- ...-NonConsanguinousUnionProband-Example.json | 10 +++- ...nsanguinousUnionProbandFather-Example.json | 10 +++- ...nsanguinousUnionProbandMother-Example.json | 10 +++- ...bservation-RenalInsufficiency-Example.json | 10 +++- .../NHSEngland-Observation-GenomicsLab.json | 2 +- 26 files changed, 379 insertions(+), 43 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json b/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json index 6c18626..2c05f8b 100644 --- a/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json +++ b/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json @@ -287,7 +287,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -509,7 +517,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -691,7 +707,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -735,7 +759,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index 95c3dcd..fd8d963 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -288,7 +288,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -590,7 +598,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -1005,7 +1021,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -1187,7 +1211,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -1231,7 +1263,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", diff --git a/Bundle/Bundle-NonWGSScenario5-ProductsofConception-Example.json b/Bundle/Bundle-NonWGSScenario5-ProductsofConception-Example.json index b9014c7..a8c2ee7 100644 --- a/Bundle/Bundle-NonWGSScenario5-ProductsofConception-Example.json +++ b/Bundle/Bundle-NonWGSScenario5-ProductsofConception-Example.json @@ -576,7 +576,15 @@ "type": "Patient" }, "effectiveDateTime": "2025-08-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -647,7 +655,15 @@ } }, "effectiveDateTime": "2025-08-25", - "valueBoolean": false, + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + }, "component": [ { "code": { @@ -692,7 +708,15 @@ } }, "effectiveDateTime": "2025-08-25", - "valueBoolean": false, + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + }, "component": [ { "code": { diff --git a/Bundle/Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example.json index 91aaf7a..ec0158b 100644 --- a/Bundle/Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example.json +++ b/Bundle/Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example.json @@ -351,7 +351,15 @@ } ] }, - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "10828004", + "display": "Positive" + } + ] + } } ], "effectiveDateTime": "2023-09-08" diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Example.json index 6caa9ef..62153b9 100644 --- a/Bundle/Bundle-NonWGSTestOrderForm-Example.json +++ b/Bundle/Bundle-NonWGSTestOrderForm-Example.json @@ -409,7 +409,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", diff --git a/Bundle/Bundle-NonWGSTestOrderForm-FetalScenario-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-FetalScenario-Example.json index 16cd5c7..c228d35 100644 --- a/Bundle/Bundle-NonWGSTestOrderForm-FetalScenario-Example.json +++ b/Bundle/Bundle-NonWGSTestOrderForm-FetalScenario-Example.json @@ -661,7 +661,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -768,7 +776,15 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -850,7 +866,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -894,7 +918,15 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json index 2407805..44e246a 100644 --- a/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json +++ b/Bundle/Bundle-NonWGSTestOrderForm-Reanalysis-Example.json @@ -429,7 +429,15 @@ } }, "effectiveDateTime": "2023-09-06", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", diff --git a/Bundle/Bundle-WGSTestOrderForm-Example.json b/Bundle/Bundle-WGSTestOrderForm-Example.json index 27c0017..eebf750 100644 --- a/Bundle/Bundle-WGSTestOrderForm-Example.json +++ b/Bundle/Bundle-WGSTestOrderForm-Example.json @@ -422,7 +422,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } }, "request": { "method": "POST", @@ -529,7 +537,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } }, "request": { "method": "POST", @@ -560,7 +576,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } }, "request": { "method": "POST", @@ -591,7 +615,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } }, "request": { "method": "POST", @@ -622,7 +654,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } }, "request": { "method": "POST", @@ -653,7 +693,15 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } }, "request": { "method": "POST", diff --git a/Observation/Observation-AutisticBehaviour-Example.json b/Observation/Observation-AutisticBehaviour-Example.json index 87bd0e5..59ded72 100644 --- a/Observation/Observation-AutisticBehaviour-Example.json +++ b/Observation/Observation-AutisticBehaviour-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-DelayedSpeechLanguageDevt-Example.json b/Observation/Observation-DelayedSpeechLanguageDevt-Example.json index 35623f0..272e4e9 100644 --- a/Observation/Observation-DelayedSpeechLanguageDevt-Example.json +++ b/Observation/Observation-DelayedSpeechLanguageDevt-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-EnlargedKidney-Example.json b/Observation/Observation-EnlargedKidney-Example.json index 72674ab..2c82092 100644 --- a/Observation/Observation-EnlargedKidney-Example.json +++ b/Observation/Observation-EnlargedKidney-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-HepaticCysts-Example.json b/Observation/Observation-HepaticCysts-Example.json index 215bc14..df31772 100644 --- a/Observation/Observation-HepaticCysts-Example.json +++ b/Observation/Observation-HepaticCysts-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-HistoryOfFetalLoss-Example.json b/Observation/Observation-HistoryOfFetalLoss-Example.json index 03114f2..749dda7 100644 --- a/Observation/Observation-HistoryOfFetalLoss-Example.json +++ b/Observation/Observation-HistoryOfFetalLoss-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-Immunodeficiency-Example.json b/Observation/Observation-Immunodeficiency-Example.json index 34daa20..d32d950 100644 --- a/Observation/Observation-Immunodeficiency-Example.json +++ b/Observation/Observation-Immunodeficiency-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-10-01", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-IntellectualDisabilityMild-Example.json b/Observation/Observation-IntellectualDisabilityMild-Example.json index 4182ca1..f9744e0 100644 --- a/Observation/Observation-IntellectualDisabilityMild-Example.json +++ b/Observation/Observation-IntellectualDisabilityMild-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-IntellectualDisabilityProfound-Example.json b/Observation/Observation-IntellectualDisabilityProfound-Example.json index a1e0eef..f6e557e 100644 --- a/Observation/Observation-IntellectualDisabilityProfound-Example.json +++ b/Observation/Observation-IntellectualDisabilityProfound-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-MultipleRenalCysts-Example.json b/Observation/Observation-MultipleRenalCysts-Example.json index f335edf..db8dde3 100644 --- a/Observation/Observation-MultipleRenalCysts-Example.json +++ b/Observation/Observation-MultipleRenalCysts-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-Nephronophthisis-Example.json b/Observation/Observation-Nephronophthisis-Example.json index f6f21f2..b656f79 100644 --- a/Observation/Observation-Nephronophthisis-Example.json +++ b/Observation/Observation-Nephronophthisis-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "2667000", + "display": "Absent" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example.json b/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example.json index 84d3751..ec219ac 100644 --- a/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example.json +++ b/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example.json @@ -42,5 +42,13 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example.json b/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example.json index 9b740c7..827c0c8 100644 --- a/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example.json +++ b/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example.json @@ -42,5 +42,13 @@ } ], "effectiveDateTime": "2023-09-25", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NonConsanguinousUnion-Example.json b/Observation/Observation-NonConsanguinousUnion-Example.json index 50bf3c8..b7dbe20 100644 --- a/Observation/Observation-NonConsanguinousUnion-Example.json +++ b/Observation/Observation-NonConsanguinousUnion-Example.json @@ -28,5 +28,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NonConsanguinousUnionProband-Example.json b/Observation/Observation-NonConsanguinousUnionProband-Example.json index d4815b6..cc46aa5 100644 --- a/Observation/Observation-NonConsanguinousUnionProband-Example.json +++ b/Observation/Observation-NonConsanguinousUnionProband-Example.json @@ -28,5 +28,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NonConsanguinousUnionProbandFather-Example.json b/Observation/Observation-NonConsanguinousUnionProbandFather-Example.json index 2d9873a..7178715 100644 --- a/Observation/Observation-NonConsanguinousUnionProbandFather-Example.json +++ b/Observation/Observation-NonConsanguinousUnionProbandFather-Example.json @@ -28,5 +28,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-NonConsanguinousUnionProbandMother-Example.json b/Observation/Observation-NonConsanguinousUnionProbandMother-Example.json index 11543d2..e6a3116 100644 --- a/Observation/Observation-NonConsanguinousUnionProbandMother-Example.json +++ b/Observation/Observation-NonConsanguinousUnionProbandMother-Example.json @@ -28,5 +28,13 @@ } }, "effectiveDateTime": "2023-09-15T15:00:00Z", - "valueBoolean": false + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "260385009", + "display": "Negative" + } + ] + } } \ No newline at end of file diff --git a/Observation/Observation-RenalInsufficiency-Example.json b/Observation/Observation-RenalInsufficiency-Example.json index 58f98fc..22babc4 100644 --- a/Observation/Observation-RenalInsufficiency-Example.json +++ b/Observation/Observation-RenalInsufficiency-Example.json @@ -29,5 +29,13 @@ } }, "effectiveDateTime": "2023-08-05", - "valueBoolean": true + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52101004", + "display": "Present" + } + ] + } } \ No newline at end of file diff --git a/StructureDefinition/NHSEngland-Observation-GenomicsLab.json b/StructureDefinition/NHSEngland-Observation-GenomicsLab.json index 9122cb7..0549874 100644 --- a/StructureDefinition/NHSEngland-Observation-GenomicsLab.json +++ b/StructureDefinition/NHSEngland-Observation-GenomicsLab.json @@ -180,7 +180,7 @@ { "id": "Observation.value[x]", "path": "Observation.value[x]", - "definition": "The value element SHOULD use the most appropriate data type for the observation in question. Using preferred CodeSystems as specified within HL7 International FHIR R4 or the UK Core. For asserting absence of a particular condition/situation, the finding SHOULD be specified within the 'code' element and 'valueBoolean' set to 'false' or 'valueCodeableConcept' set to an appropriate qualifier value code from SNOMED CT.\r\nHPO terms are recorded as being either Absent or Present, this is represented within FHIR by the HPO term being recorded in Observation.code.coding.code, with the Absent/Present status being recorded as Observation.valueBoolean set as false or true respectively.\r\n\r\nFor an assertion of a particular situation being present, e.g. a Condition or Procedure having been performed, these SHOULD be collected within the relevant clinical resources, alongside additional information needed to inform interpretation." + "definition": "The value element SHOULD use the most appropriate data type for the observation in question. Using preferred CodeSystems as specified within HL7 International FHIR R4 or the UK Core. For asserting absence of a particular condition/situation, the finding SHOULD be specified within the 'code' element and 'valueCodeableConcept' set to an appropriate qualifier value code from SNOMED CT.\r\nHPO terms are recorded as being either Absent or Present, this is represented within FHIR by the HPO term being recorded in Observation.code.coding.code, with the Absent/Present status being recorded as Observation.valueCodeableConcept set to the SNOMED CT terms for Absent or Present respectively.\r\n\r\nFor an assertion of a particular situation being present, e.g. a Condition or Procedure having been performed, these SHOULD be collected within the relevant clinical resources, alongside additional information needed to inform interpretation." }, { "id": "Observation.component",