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-SLC52A2-VariantAbsent-Example
Example of an Observation indicating the absence of a Genomic variant.
| Observation |
| id : Observation-SLC52A2-VariantAbsent-Example |
| 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://loinc.org |
| code : 69548-6 |
| display : Genetic variant assessment |
| coding |
| system : http://snomed.info/sct |
| code : 414755005 |
| display : Molecular, genetic AND/OR cellular observable |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| effective : 2023-09-16 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260415000 |
| display : Not detected |
| coding |
| system : http://loinc.org |
| code : LA9634-2 |
| display : Absent |
| text : Variant not detected |
| method |
{
{
]
},
{
}
],
{
},
{
}
]
},
},
{
},
{
}
],
}
}
</coding>
</category>
</coding>
</category>
</coding>
</coding>
</code>
</subject>
</coding>
</coding>
</valueCodeableConcept>
</Observation>