Within Genomic Reporting their is a archetype (FHIR Observation profile) called Diagnostic Implication which links a Variant to a Genetic Disorder (in FHIR this is an Observation and V2 this is OBX segment)
FHIR Genomic Reporting and EPIC are currently using a local code for this Observation and following NHS England guidelines this should be SNOMED CT
<code>
<coding>
<system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" />
<code value="diagnostic-implication" />
<display value="Diagnostic Implication" />
</coding>
<text value="Diagnostic Implication" />
</code>
Does SNOMED CT have a concept for this? Nearest I can find is 47461006 Genetic disorder carrier which is a finding (ValueSet ). This code may be appropriate for GP and Secondary Observations but not in a Laboratory setting.
Note: NHS England has a CodeSystem for Genomic Disorder which is called Clinical Indication Code and part of the NHS England Genomic Test Directory (I believe NHS E is creating a ConceptMap between this and SNOMED). EPIC appears to be using ICD for this.
Similar conversations with HL7 around LOINC can be found here Public view of FHIR Community | Zulip team chat
This is how I see the boundary process between Genomics and Clinical domains (in this case a GP)
From a Diagnostic Implication a clinician may record an Observation or Condition in the patients record. (The GP does not record the Diagnostic Implication in the patient’s EPR record). The code distinguishing these archetypes (FHIR profiles) and primary/secondary care domain entities (Resources) is important and so should/MUST be SNOMED (or LOINC) encoded.
My working out with examples
Hi @Kevin_Mayfield
This is a terminology question and I do not think many pure terminologists will be looking at these pages. If you want to ask the question I would recommend sending your question to information.standards@nhs.net.
Hi @Kevin_Mayfield, there is currently no equivalent in SNOMED CT, though you could possibly get away with 243814003 | Interpretation of findings (observable entity) | (as it is from the observable entity hierarchy) though this is a bit wider than the Diagnostic Implication. The UK Core only has the binding set as preferred, so while there may be a requirement from a process standpoint, there is no technical constraint to say the code MUST be SNOMED CT, especially as there is no equivalent in the system.
As @bill.lush says though, this question should be aimed at the terminology team for a definitive answer. The NHS England Genomics Unit is also engaging the terminology team for support on similar terminology questions from a national perspective
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thanks.
I’m in a small team with no clinical coders at present, so I’m a bit hesitant to bring a topic as potentially big as this to terminology services.
As this code doesn’t leave our domain it allows me to add a SNOMED or LOINC at a later date by running a code conversion.
Also it might have more weight at a later date when several EHR suppliers are more involved (when we have another domain using data from our domain).
A problem here is NHS England (as a whole) have effectively said code MUST be SNOMED.
