StructureDefinition-snp

Sourcearkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idsnp
canonicalhttps://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/snp
version2.1.0
statusdraft
publisherArkhn
nameSNP
titleSingle Nucleotide Polymorphism
date2023-08-28T10:50:04+00:00
descriptionObservation of a Single Nucleotide Polymorphism (SNP) derived from a Sequencing Analysis.
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
. . . strand-bias S 0..1 boolean DNA strand bias
URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
. . . . value[x]
. . . subject S 1.. Reference (Oncology Patient)
. . . derivedFrom S 1..1 Reference (Sequencing Analysis) Analysis from which come this observation
. . . Slices for component 8 .. Slice: Unordered, Open by pattern:code
. . . . component:cytogenetic-location S ..1 Cytogenetic map
. . . . . value[x] Binding: CytoBand Value Set ( required )
. . . . component:ref-sequence-assembly S 1..1 Reference genome version
. . . . . value[x] Binding: GenomeBuild Value Set ( extensible )
. . . . component:dna-chg-type S 1.. Type
. . . . . value[x] Binding: DNA Change Type Value Set ( extensible )
. . . . component:genomic-source-class S 1.. Cellular type
. . . . . value[x]
. . . . component:allelic-read-depth S 1..1 Depth
. . . . . value[x]
. . . . component:allelic-state S Zygotia
. . . . . value[x]
. . . . component:ref-allele S 1.. Reference allele
. . . . . value[x]
. . . . component:alt-allele S 1.. Alternative allele
. . . . . value[x]
. . . . component:exact-start-end
. . . . . value[x]
. . . . . . low S Start position
. . . . . . high S 1.. End position
. . . . component:pathogenicity S 0..1 Pathogenicity
. . . . . code 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: 74019-1
. . . . . value[x] CodeableConcept Binding: Pathogenicity Value Set ( required )
. . . . component:actionability S 0..1 Impact on patient treatment
. . . . . code 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: 93348-1
. . . . . value[x] boolean
. . . . component:proposed-for-orientation S 0..1 Impact on the choice of therapy
. . . . . code 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/umls
. . . . . . . code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
. . . . . value[x] boolean
. . . . component:chromosome S 1..* Chromosome
. . . . . code 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: 48000-4
. . . . . value[x] S 1.. CodeableConcept Binding: Chromosome Value Set ( required )
. . . . component:variant-read-depth S 1..1 Alternative allele depth
. . . . . code 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: LP232001-0
. . . . . value[x] S 1.. Quantity

doco Documentation for this format

Produced 08 Sep 2023