Generated Narrative: CodeSystem moleculardefinition-representation-focus

Last updated: 2025-01-30 00:00:00+0000

Profile: Shareable CodeSystem

This case-sensitive code system http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus defines the following codes:

CodeDisplayDefinition
allele-state Allele StateThe representation defines the state of an allele at a genomic location.
context-state Context StateThe representation defines the state of the genomic sequence context or background for the allele.
reference-state Reference StateThe representation defines the reference state of the sequence at a genomic location.
alternative-state Alternative StateThe representation defines an alternative state of the sequence at a genomic location.
 <status value="draft"/> <experimental value="true"/> <date value="2025-01-30"/> <publisher value="HL7 International / Clinical Genomics"/> <contact> <name value="HL7 International / Clinical Genomics"/> <telecom> <system value="url"/> <value value="http://www.hl7.org/Special/committees/clingenomics"/> </telecom> <telecom> <system value="email"/> <value value="clingenomics@lists.hl7.org"/> </telecom> </contact> <description value="The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location."/> <jurisdiction> <coding> <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/> <code value="001"/> <display value="World"/> </coding> </jurisdiction> <caseSensitive value="true"/> <valueSet value="http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus"/> <content value="complete"/> <concept> <code value="allele-state"/> <display value="Allele State"/> <definition value="The representation defines the state of an allele at a genomic location."/> </concept> <concept> <code value="context-state"/> <display value="Context State"/> <definition value="The representation defines the state of the genomic sequence context or background for the allele."/> </concept> <concept> <code value="reference-state"/> <display value="Reference State"/> <definition value="The representation defines the reference state of the sequence at a genomic location."/> </concept> <concept> <code value="alternative-state"/> <display value="Alternative State"/> <definition value="The representation defines an alternative state of the sequence at a genomic location."/> </concept> </CodeSystem>