StructureDefinition-finding

Sourcehl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idfinding
canonicalhttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/finding
version2.1.0-SNAPSHOT
statusactive
publisherHL7 Clinical Genomics Working Group
nameGenomicFinding
titleGenomics Finding
date2023-07-25T14:43:25+00:00
descriptionProperties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.).
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
abstracttrue
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base
Usages
Name Flags Card. Type Description & Constraints doco
. . Observation GenomicsBase 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
. . . component:gene-studied 0..* 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:cytogenetic-location 0..* Cytogenetic (Chromosome) Location
. . . . code 48001-2
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: 48001-2
. . . . value[x] 1.. CodeableConcept Example: 1q21.1
. . . component:reference-sequence-assembly 0..* Human Reference Sequence Assembly
. . . . code 62374-4
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: 62374-4
. . . . value[x] 1.. CodeableConcept GRCh37 | GRCh38 | ...
Binding: todo ( extensible )

doco Documentation for this format

Produced 08 Sep 2023