StructureDefinition-region-studied

Sourcehl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idregion-studied
canonicalhttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied
version2.1.0-SNAPSHOT
statusactive
publisherHL7 Clinical Genomics Working Group
nameRegionStudied
titleRegion Studied
date2023-01-27T19:18:42+00:00
descriptionThe Region Studied profile is used to assert actual regions studied for the performed test(s). Intended coverage areas may differ from actual coverage areas (e.g. due to technical limitations during test performance).
copyrightThis material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.
jurisdictionsuv
fhirVersion4.0.1
kindresource
abstractfalse
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base
Usages
Name Flags Card. Type Description & Constraints doco
. . Observation GenomicsBase Region Studied
. . . code 53041-0
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://loinc.org
. . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53041-0
. . . value[x] .. 0
. . . component:gene-studied 0..1 Gene Studied
. . . . code 48018-6
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48018-6
. . . . value[x] 1.. CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) ( extensible )
. . . component:gene-mutations 0..1 Gene Mutations ID
. . . . code 36908-2
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 36908-2
. . . . value[x] 1.. CodeableConcept Binding: Human Genome Variation Society (HGVS) Nomenclature ( required )
. . . component:region-description 0..1 Region Description
. . . . code 81293-3
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81293-3
. . . . value[x] string
. . . component:region-coverage 0..1 Region Coverage
. . . . code region-coverage
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: region-coverage
. . . . value[x] Quantity
. . . component:ranges-examined 0..* Range(s) of DNA sequence examined
. . . . code 51959-5
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51959-5
. . . . value[x] Range
. . . component:coordinate-system 0..1 Coordinate System
. . . . code 92822-6
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 92822-6
. . . . value[x] 1.. CodeableConcept 0-based interval counting | 0-based character counting | 1-based character counting
Binding: todo ( extensible )
. . . component:genomic-ref-seq 0..1 Genomic Reference Sequence
. . . . code 48013-7
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://loinc.org
. . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48013-7
. . . . value[x] 1.. CodeableConcept Versioned genomic reference sequence identifier.
Binding: todo ( example ): Multiple bindings acceptable (NCBI or LRG)

. . . component:uncallable-regions 0..* Uncallable Sub-regions
. . . . code uncallable-regions
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: uncallable-regions
. . . . value[x] Range Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.

doco Documentation for this format

Produced 06 Apr 2023