Overall IG Diagram
2017-11-07 03:34:34 0 举报Overview of DiagnosticReport and Observation
作者其他创作
大纲/内容
result(0..*)
Lab UserViewpoint
DNA Variant Profile
0..*
related(derived-from)
Clinical UserViewpoint
Complex Variant can include multi DiscreteVariants or Genotypes
All independent Components can be used freely and optional in any profiles they are need
Discrete Variant
Backbone Genotype Panel
result(1..*)
AllelicStateInfo
AminoAcidChange
Related(derived-from)1..*
related(has-member)
All of the Profiles should link to one of the profiles in the Backbone Profile Section
Structural Variant
DiagnosticReport
Predefined&Shareable Components List
No
Phenotype Panel
Sequence
Include whatever interpretation text/code the report needed.
Additional Genetic Information Profiles
Is it a report for Complex Genotype Variant?
Ancestry
Related(derived-from)
ComplexVariant
Sequence Level
Yes
AssessMedication
Overall Genotype Levle
optional
related(derived-from) 1..*
Component(PhaseSetID)Component(geneticsPhaseSet) 82120-7Component(ChromosomeLocation) 48001-2Component(DNARegionName) 81293-3
Programming UserViewpoint
Genotype
Haplotype
GeneticInterpretation
GenomicSourceClass
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