Source | arkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1) |
resourceType | StructureDefinition |
id | snp |
canonical | https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/snp |
version | 2.1.0 |
status | draft |
publisher | Arkhn |
name | SNP |
title | Single Nucleotide Polymorphism |
date | 2023-08-28T10:50:04+00:00 |
description | Observation of a Single Nucleotide Polymorphism (SNP) derived from a Sequencing Analysis. |
fhirVersion | 4.0.1 |
kind | resource |
abstract | false |
sdTtype | Observation |
derivation | constraint |
base | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant |
Usages |
|
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
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 | |
Documentation for this format |
Produced 08 Sep 2023