| All | OperationalTemplate [rootArchetypeId=openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0, otherContributors=null, tshis=[ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0], code=at0000, itemType=EVALUATION, level=0, text=Cumulative pharmacogenetic profile, description=Details of cumulative pharmacogenetic phenotype findings relating to a single gene, in particular to record metaboliser status / functional activity against an enzyme known to impact the effectiveness/ toxicity of one or more medications.
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Note that CPIC currently recommends the use of LOINC-based "Phenotypic interpretation" terms and not the Genes names e.g. "TPMT Gene Product
Metabolic Activity Interpretation"., comment=For example:
http://www.genenames.org::CYP2C9 | CYP2C9 |
See https://terminology.hl7.org/CodeSystem-v3-hgnc.json.html, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values= Text Coded TextValue set: external
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'g.94938683A>G' (Gene changes)
'*1/*36' (Star allele diplotype), uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pharmacogenetic_analyte_result.v0]/items[at0052], code=at0052, itemType=ELEMENT, level=3, text=Phenotype, description=The estimated pharmacological impact of the identified genotype. The internal terms are based on CPIC phenotype recommendations see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253119/ .
These terms are bound to SNOMED CT and LOINC equivalents.
The list is left open as other terms may be required., comment=For example:
'local::at0057 | Poor metaboliser |', uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=- Coded Text
- Normal metaboliser
- Rapid metaboliser
- Ultrarapid metaboliser
- Intermediate metaboliser
- Poor metaboliser
- Increased function
- Decreased function
- Normal function
- Poor function
- Negative
- Positive
- Normal risk of aminoglycoside-induced hearing loss
- Increased risk of aminoglycoside-induced hearing loss
- Uncertain risk of aminoglycoside-induced hearing loss
- Text
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