| 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.
As individual pharmacogenetic tests may provide only incomplete allele testing, this archetype is intended to act as an overall cumulative representation of tall individual tests, from which therapeutic recommendations should be derived., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=EVALUATION, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0]/data[at0001], code=at0001, itemType=UNSUPPORTEDTOPLEVELATTRIBUTE, level=1, text=Data, description=, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=UNSUPPORTEDTOPLEVELATTRIBUTE, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pharmacogenetic_result.v0], code=at0000, itemType=CLUSTER, level=2, text=Cumulative pharmacogenetic result, description=Findings on pharmacogenetic testing for a single gene., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pharmacogenetic_result.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=3, text=Gene symbol, description=The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name., comment=Coding with an external terminology is preferred, where possible.
Preferably this should be coded with terms from the HGNC (HUGO Gene Nomenclature Committee) nomenclature, using 'http://www.genenames.org' as the terminology identifier.
For example: 'http://www.genenames.org::CYP2C9 | CYP2C9 |'., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, 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_result.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=3, text=Diplotype, description=A textual representation of the diplotype, normally as string of characters, either as as gene change descriptors or star allele diplotypes., comment=For example: 'g.94938683A>G' (Gene changes) or '*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_result.v0]/items[at0052], code=at0052, itemType=ELEMENT, level=3, text=Phenotype, description=The estimated pharmacological impact of the identified genotype., comment=The coded text values are based on CPIC phenotype recommendations - see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253119/.
It is possible to add other coded text values when they are required., 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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For example: RTF or PDF for a document; JPG for an image; MP4 for a video; or WAV for an audio file. If the file is stored at a location outside of the health record, the detailed path to the file is captured using the URI attribute in the Multimedia data type. The Multimedia data type has many RM attributes such as the size of file and URI to an external source - see https://specifications.openehr.org/releases/RM/latest/data_types.html#_dv_multimedia_class., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_MULTIMEDIA, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pharmacogenetic_result.v0]/items[openEHR-EHR-CLUSTER.genomic_variant_result.v1]/items[openEHR-EHR-CLUSTER.media_file.v1]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=Content name, description=Descriptive name or title for the media file., comment=A description of the content of the media file. Use an agreed standardised naming convention, if available. 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