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-DiseasePenetrancePheobeSmitham-Example
Example of an Observation indicating the degree of disease penetrance on the subject.
| Observation |
| id : Observation-DiseasePenetrancePheobeSmitham-Example |
| status : final |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R14 |
| display : Acutely unwell children with a likely monogenic disorder |
| version : 7 |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307539 |
| effective : 2023-09-15T15:00:00Z |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 87006007 |
| display : Dominant autosomal hereditary disorder, incomplete penetrance |
{
{
}
]
},
}
},
{
}
]
}
}
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>