| ARCHETYPE ID | openEHR-EHR-CLUSTER.genotype.v0 |
| Concept | Genotype |
| Description | Details of an individual identified genotype as a result of laboratory testing. |
| Purpose | To record details of an individual identified genotype as a result of laboratory testing. |
| References | HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR v4.0.1 "HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR V4.0.1". Build.Fhir.Org, 2023, http://build.fhir.org/ig/HL7/genomics-reporting/background.html. Accessed 7 Mar 2023. Dolin, R., Boxwala, A. and Shalaby, J. Dolin, R.H. et al. "A Pharmacogenomics Clinical Decision Support Service Based On FHIR And CDS Hooks". Methods Of Information In Medicine, vol 57, no. S 02, 2018, pp. e115-e123. Georg Thieme Verlag KG, doi:10.1055/s-0038-1676466. Accessed 7 Mar 2023. |
| Copyright | © Apperta Foundation |
| Authors | Author name: Ian McNicoll Organisation: freshEHR Clinical Informatics Email: ian@freshehr.com Date originally authored: 2022-09-21 |
| Other Details Language | Author name: Ian McNicoll Organisation: freshEHR Clinical Informatics Email: ian@freshehr.com Date originally authored: 2022-09-21 |
| OtherDetails Language Independent | {licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=Apperta UK, references=HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR v4.0.1 "HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR V4.0.1". Build.Fhir.Org, 2023, http://build.fhir.org/ig/HL7/genomics-reporting/background.html. Accessed 7 Mar 2023. Dolin, R., Boxwala, A. and Shalaby, J. Dolin, R.H. et al. "A Pharmacogenomics Clinical Decision Support Service Based On FHIR And CDS Hooks". Methods Of Information In Medicine, vol 57, no. S 02, 2018, pp. e115-e123. Georg Thieme Verlag KG, doi:10.1055/s-0038-1676466. Accessed 7 Mar 2023., original_namespace=uk.org.clinicalmodels, original_publisher=Apperta UK, custodian_namespace=uk.org.clinicalmodels, MD5-CAM-1.0.1=5AC8919C82A385E204622E68AFD6B867, build_uid=25614653-3aba-458b-8c91-6f62d1a10baf, revision=0.0.1} |
| Keywords | genotype, gene, genetics, genomics. |
| Lifecycle | rejected |
| UID | f681638b-bb88-480c-bcbc-694a48df7d2b |
| Language used | en |
| Citeable Identifier | 1051.32.1181 |
| Revision Number | 0.0.1 |
| All | Archetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Details of an individual identified genotype as a result of laboratory testing., archetypeConceptComment=null, otherContributors=, originalLanguage=en, translators=, subjectOfData=unconstrained, archetypeTranslationTree=null, topLevelToAshis={content=[], description=[], details=[], source=[], capabilities=[], other_participations=[], protocol=[], provider=[], activities=[], state=[], events=[], ism_transition=[], data=[], target=[], identities=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=Gene name, description=A term which identifies the genome concerned. Normally coded with a recognised coding system such as Clinvar., comment=For example: 'CYP2B6', uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0004], code=at0004, itemType=ELEMENT, level=1, text=(Genotype display name), description=Text defining the genotype, normally as string of characters. Different formats can be designated using a specific name constraint as a genotype , diplotype or activity score representation., comment=For example:
1. Diplotype : *2/*2
2. Genotype: rs9923231 C/T
3. Activity Score:2, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=Runtime name constraint:
|