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.
Observation-GenomicTherapeuticImplication-Example
Example of an Observation representing a Therapeutic Implication derived from Genomic Testing.
| Observation |
| id : Observation-GenomicTherapeuticImplication-Example |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication |
| profile : http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab |
| status : final |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v2-0074 |
| code : GE |
| code |
| coding |
| system : http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs |
| code : therapeutic-implication |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| effective : 2023-09-16 |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| derivedFrom |
| reference : Observation/Observation-GenomicsVariantSLC52A2-Example |
| component |
| code |
| coding |
| system : http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs |
| code : therapeutic-implication |
| display : Therapeutic Implication |
| value |
| coding |
| system : http://loinc.org |
| code : LA9661-5 |
| display : Presumed responsive |
| component |
| code |
| coding |
| system : http://loinc.org |
| code : 51963-7 |
| display : Medication assessed |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 438481000124108 |
| display : Riboflavin supplement |
| note |
| text : High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598) |
{
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication",
"http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
]
},
{
]
},
{
}
],
{
}
]
},
},
],
],
{
{
}
]
},
]
}
},
{
},
{
}
]
}
}
],
{
"text": "High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598)"
}
]
}
<profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" />
</meta>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</subject>
</identifier>
</performer>
<text value="High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598)" />
</note>
</derivedFrom>
</coding>
</code>
</coding>
</valueCodeableConcept>
</component>
</coding>
</code>
</coding>
</valueCodeableConcept>
</component>
</Observation>