Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
DiagnosticReport-PhoebeSmithGeneticReport-Example
Example of a DiagnosticReport with the minimal amount of information expected by the Genomic Medicine Service when returning unstructured reports back to a requester (NOTE: basedOn SHALL reference a ServiceRequest resource within the central broker). For Structured Reports, users SHOULD follow guidance provided within the HL7 Genomic Reporting Implementation Guide.
| DiagnosticReport |
| id : DiagnosticReport-PhoebeSmithGeneticReport-Example |
| identifier |
| system : https://mft.nhs.uk//nwglh/lims |
| value : SLC52A2_GenomicReport |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| basedOn |
| reference : ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example |
| status : final |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v2-0074 |
| code : GE |
| display : Genetics |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 1054161000000101 |
| display : Genetic report |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| issued : 2023-10-16T15:50:00Z |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| specimen |
| reference : Specimen/Specimen-PheobeSmitham-Example |
| specimen |
| reference : Specimen/Specimen-PheobeSmithamFather-Example |
| specimen |
| reference : Specimen/Specimen-PheobeSmithamMother-Example |
| conclusionCode |
| coding |
| system : http://snomed.info/sct |
| code : 699866005 |
| display : Brown-Vialetto-Van Laere syndrome |
| text : Brown-Vialetto-Van Laere syndrome 2 |
| presentedForm |
| contentType : application/pdf |
| language : en-GB |
| url : https://cts5j3.axshare.com/?id=mhxwul&p=final_report_issued_test_complete&g=1 |
| size : 43272 |
| title : Genomic Report for Pheobe Smitham |
| creation : 2023-10-16 |
{
{
}
}
],
],
{
]
}
],
]
},
},
],
{
},
{
},
{
}
],
{
{
}
],
}
],
{
}
]
}
</identifier>
</assigner>
</identifier>
</basedOn>
</coding>
</category>
</coding>
</code>
</subject>
</identifier>
</performer>
</specimen>
</specimen>
</specimen>
</coding>
</conclusionCode>
</presentedForm>
</DiagnosticReport>