ActivityDefinition

ActivityDefinition-DGTS-GT1-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT1-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT1",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT1"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R47.2"
}
],
"version": "1.0",
"name": "GT1_ActivityDefinition",
"title": "15q11 critical region (AS/PWS) - MLPA or equivalent",
"status": "active",
"experimental": false,
"relatedArtifact": [
{
"type": "composed-of",
"label": "Carney complex",
"display": "GMS Rare Disease",
"url": "https://panelapp.genomicsengland.co.uk/panels/1313"
}
],
"library": [
"https://fhir.nhs.uk/Library/GT1"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT1-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT1" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT1" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R47.2" />
</identifier>
<version value="1.0" />
<name value="GT1_ActivityDefinition" />
<title value="15q11 critical region (AS/PWS) - MLPA or equivalent" />
<status value="active" />
<experimental value="false" />
<relatedArtifact>
<type value="composed-of" />
<label value="Carney complex" />
<display value="GMS Rare Disease" />
<url value="https://panelapp.genomicsengland.co.uk/panels/1313" />
</relatedArtifact>
<library value="https://fhir.nhs.uk/Library/GT1" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT103-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT103-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT103",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT103"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R375.1"
}
],
"name": "GT103_Family follow-up testing to aid variant interpretation",
"title": "Family follow-up testing to aid variant interpretation - Targeted variant testing",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT103-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT103" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT103" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R375.1" />
</identifier>
<name value="GT103_Family follow-up testing to aid variant interpretation" />
<title value="Family follow-up testing to aid variant interpretation - Targeted variant testing" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT1124-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT1124-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT1124",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT1124"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R448.1"
}
],
"name": "GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing",
"title": "Prenatal Diagnosis for known variant(s) - Targeted variant testing",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT1124-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT1124" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT1124" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R448.1" />
</identifier>
<name value="GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing" />
<title value="Prenatal Diagnosis for known variant(s) - Targeted variant testing" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-192-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-192-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT192",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT192"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R387.1"
}
],
"version": "1.0",
"name": "GT192_Reanalysis-of-existing-data",
"title": "Reanalysis of existing data",
"status": "active",
"experimental": false,
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "sequencing"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-192-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT192" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT192" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R387.1" />
</identifier>
<version value="1.0" />
<name value="GT192_Reanalysis-of-existing-data" />
<title value="Reanalysis of existing data" />
<status value="active" />
<experimental value="false" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="sequencing" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT36-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT36-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT36",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT36"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R242.1"
}
],
"name": "GT36_Targeted-variant-testing",
"title": "Predictive testing for known variant(s) - Targeted variant testing",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT36-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT36" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT36" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R242.1" />
</identifier>
<name value="GT36_Targeted-variant-testing" />
<title value="Predictive testing for known variant(s) - Targeted variant testing" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT417-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT417-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT417",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT417"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R263.1"
}
],
"name": "GT417_Confirmation of uniparental disomy",
"title": "Confirmation of uniparental disomy",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT417-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT417" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT417" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R263.1" />
</identifier>
<name value="GT417_Confirmation of uniparental disomy" />
<title value="Confirmation of uniparental disomy" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT46-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT46-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT46",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT46"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R69.5"
}
],
"name": "GT46_Hypotonic-infant-WGS",
"title": "Hypotonic infant - WGS",
"status": "active",
"relatedArtifact": [
{
"type": "composed-of",
"display": "Hypotonic infant",
"url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1"
}
],
"library": [
"https://fhir.nhs.uk/Library/GT46"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "whole-genome-sequencing"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT46-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT46" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT46" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R69.5" />
</identifier>
<name value="GT46_Hypotonic-infant-WGS" />
<title value="Hypotonic infant - WGS" />
<status value="active" />
<relatedArtifact>
<type value="composed-of" />
<display value="Hypotonic infant" />
<url value="https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1" />
</relatedArtifact>
<library value="https://fhir.nhs.uk/Library/GT46" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="whole-genome-sequencing" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT732-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT732-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT732",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT732"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R244.1"
}
],
"name": "GT732_Carrier testing for known variant(s) - Targeted variant testing",
"title": "Carrier testing for known variant(s) - Targeted variant testing",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT732-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT732" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT732" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R244.1" />
</identifier>
<name value="GT732_Carrier testing for known variant(s) - Targeted variant testing" />
<title value="Carrier testing for known variant(s) - Targeted variant testing" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT858-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT858-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT858",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT858"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R443.1"
}
],
"name": "GT858_Confirmation test",
"title": "Confirmation test",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT858-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT858" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT858" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R443.1" />
</identifier>
<name value="GT858_Confirmation test" />
<title value="Confirmation test" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>

ActivityDefinition-DGTS-GT897-Example

Example of a ActivityDefinition for a DGTS Test.

ActivityDefinition
{
"resourceType": "ActivityDefinition",
"id": "ActivityDefinition-DGTS-GT897-Example",
"url": "https://fhir.nhs.uk/ActivityDefinition/GT897",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
"value": "GT897"
},
{
"use": "old",
"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
"value": "R240.1"
}
],
"name": "GT897_Diagnostic testing for known variant(s) - Targeted variant testing",
"title": "Diagnostic testing for known variant(s) - Targeted variant testing",
"status": "active",
"library": [
"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
"code": "targeted-assay"
}
]
},
"specimenRequirement": [
{
"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
}
]
}
<ActivityDefinition xmlns="http://hl7.org/fhir">
<id value="ActivityDefinition-DGTS-GT897-Example" />
<url value="https://fhir.nhs.uk/ActivityDefinition/GT897" />
<identifier>
<system value="https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices" />
<value value="GT897" />
</identifier>
<identifier>
<use value="old" />
<system value="https://fhir.nhs.uk/Id/England-GenomicTestDirectory" />
<value value="R240.1" />
</identifier>
<name value="GT897_Diagnostic testing for known variant(s) - Targeted variant testing" />
<title value="Diagnostic testing for known variant(s) - Targeted variant testing" />
<status value="active" />
<library value="https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type" />
<code value="targeted-assay" />
</coding>
</code>
<specimenRequirement>
<reference value="SpecimenDefinition/DGTS-SpecimenDefinition-Example" />
</specimenRequirement>
</ActivityDefinition>