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 |
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Name | Flags | Card. | Type |
Description & Constraints
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Variant | |||
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S | 0..1 | boolean |
DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias |
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S | 1.. | Reference (Oncology Patient) | |
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S | 1..1 | Reference (Sequencing Analysis) | Analysis from which come this observation |
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8 .. | Slice: Unordered, Open by pattern:code | ||
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S | ..1 | Cytogenetic map | |
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Binding: CytoBand Value Set ( required ) | |||
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S | 1..1 | Reference genome version | |
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Binding: GenomeBuild Value Set ( extensible ) | |||
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S | 1.. | Type | |
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Binding: DNA Change Type Value Set ( extensible ) | |||
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S | 1.. | Cellular type | |
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S | 1..1 | Depth | |
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S | Zygotia | ||
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S | 1.. | Reference allele | |
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S | 1.. | Alternative allele | |
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S | Start position | ||
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S | 1.. | End position | |
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S | 0..1 | Pathogenicity | |
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Required Pattern: At least the following | |||
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1..* | Coding |
Code defined by a terminology system Fixed Value: (complex) |
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1..1 | uri |
Identity of the terminology system Fixed Value: http://loinc.org |
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1..1 | code |
Symbol in syntax defined by the system Fixed Value: 74019-1 |
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CodeableConcept | Binding: Pathogenicity Value Set ( required ) | ||
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S | 0..1 | Impact on patient treatment | |
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Required Pattern: At least the following | |||
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1..* | Coding |
Code defined by a terminology system Fixed Value: (complex) |
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1..1 | uri |
Identity of the terminology system Fixed Value: http://loinc.org |
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1..1 | code |
Symbol in syntax defined by the system Fixed Value: 93348-1 |
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boolean | |||
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S | 0..1 | Impact on the choice of therapy | |
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Required Pattern: At least the following | |||
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1..* | Coding |
Code defined by a terminology system Fixed Value: (complex) |
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1..1 | uri |
Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls |
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1..1 | code |
Symbol in syntax defined by the system Fixed Value: C0449889 |
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boolean | |||
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S | 1..* |
Chromosome |
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Required Pattern: At least the following | |||
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1..* | Coding |
Code defined by a terminology system Fixed Value: (complex) |
|
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1..1 | uri |
Identity of the terminology system Fixed Value: http://loinc.org |
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1..1 | code |
Symbol in syntax defined by the system Fixed Value: 48000-4 |
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S | 1.. | CodeableConcept | Binding: Chromosome Value Set ( required ) |
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S | 1..1 | Alternative allele depth | |
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Required Pattern: At least the following | |||
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1..* | Coding |
Code defined by a terminology system Fixed Value: (complex) |
|
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1..1 | uri |
Identity of the terminology system Fixed Value: http://loinc.org |
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1..1 | code |
Symbol in syntax defined by the system Fixed Value: LP232001-0 |
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S | 1.. | Quantity | |
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Produced 08 Sep 2023