Source | hl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1) |
resourceType | StructureDefinition |
id | genomics-base |
canonical | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base |
version | 2.1.0-SNAPSHOT |
status | active |
publisher | HL7 Clinical Genomics Working Group |
name | GenomicsBase |
title | Genomics Base |
date | 2023-07-25T14:43:25+00:00 |
description | Base profile that defines characteristics shared by all genetic observations. |
jurisdictions | uv |
fhirVersion | 4.0.1 |
kind | resource |
abstract | true |
sdTtype | Observation |
derivation | constraint |
base | http://hl7.org/fhir/StructureDefinition/Observation |
Usages |
|
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
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) | ||
Documentation for this format |
Produced 08 Sep 2023