StructureDefinition-genomics-base

Sourcehl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idgenomics-base
canonicalhttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base
version2.1.0-SNAPSHOT
statusactive
publisherHL7 Clinical Genomics Working Group
nameGenomicsBase
titleGenomics Base
date2023-07-25T14:43:25+00:00
descriptionBase profile that defines characteristics shared by all genetic observations.
jurisdictionsuv
fhirVersion4.0.1
kindresource
abstracttrue
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/StructureDefinition/Observation
Usages
Name Flags Card. Type Description & Constraints doco
. . Observation Observation This is an abstract profile. Child profiles: Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation , Observation
. . . Slices for extension Slice: Unordered, Open by value:url
. . . secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: Genetic Observation Secondary Findings ( extensible ): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.

. . . body-structure 0..1 Reference ( BodyStructure ) Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
. . . Slices for category 2 .. Slice: Unordered, Open by value:coding
. . . . category:labCategory 1..1
. . . . . coding 1.. Required Pattern: At least the following
. . . . . . system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
. . . . category:geCategory 1..1
. . . . . coding 1.. Required Pattern: At least the following
. . . . . . system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
. . . note Annotation Comments about the Observation that also contain a coded type
. . . Slices for component Slice: Unordered, Open by pattern:code
. . . . component:conclusion-string 0..1 Clinical Conclusion
. . . . . code conclusion-string
Required Pattern: At least the following
. . . . . . coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
. . . . . . . system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
. . . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: conclusion-string
. . . . . value[x] string Summary conclusion (interpretation/impression)

doco Documentation for this format

Produced 08 Sep 2023