StructureDefinition-mcode-genomic-variant

Sourcehl7.fhir.us.mcode#current:minimal Common Oncology Data Elements (mCODE) Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idmcode-genomic-variant
canonicalhttp://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
version3.0.0
statusdraft
publisherHL7 International Clinical Interoperability Council
nameGenomicVariant
titleGenomic Variant Profile
date2023-09-05T12:18:59+00:00
descriptionDetails about a set of changes in the tested sample compared to a reference sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation. Variants can be computed relative to reference sequence assembly from which it was identified.
jurisdictionsus
fhirVersion4.0.1
kindresource
abstractfalse
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
Usages
Name Flags Card. Type Description & Constraints doco
. . Observation Variant
. . . status S
. . . category S
. . . category:labCategory 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://terminology.hl7.org/CodeSystem/observation-category
. . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
. . . . coding ..1
. . . code S
. . . subject S Reference (Cancer Patient Profile)
. . . Slices for effective[x] S Slice: Unordered, Open by type:$this
. . . . effective[x]:effectiveDateTime S 0..1 dateTime
. . . value[x] S
. . . dataAbsentReason S
. . . method S
. . . specimen S Reference (Human Specimen Profile)
. . . referenceRange Not used in this profile
. . . hasMember Not used in this profile
. . . component S
. . . component:gene-studied S
. . . . code S
. . . . value[x] S
. . . component:cytogenetic-location S
. . . . code S
. . . . value[x] S
. . . component:genomic-hgvs S
. . . . code S
. . . . value[x] S
. . . component:cytogenomic-nomenclature S
. . . . code S
. . . . value[x] S
. . . component:coding-change-type S
. . . . code S
. . . . value[x] S
. . . component:genomic-source-class S
. . . . code S
. . . . value[x] S
. . . component:sample-allelic-frequency S
. . . . code S
. . . . value[x] S
. . . component:allelic-state S
. . . . code S
. . . . value[x] S
. . . component:variation-code S
. . . . code S
. . . . value[x] S
. . . component:protein-hgvs S
. . . . code S
. . . . value[x] S
. . . component:amino-acid-change-type S
. . . . code S
. . . . value[x] S
. . . component:molecular-consequence S
. . . . code S
. . . . value[x] S
. . . component:copy-number S
. . . . code S
. . . . value[x] S

doco Documentation for this format

Produced 08 Sep 2023