| Name | Flags | Card. | Type |
Description & Constraints
|
|---|---|---|---|---|
Observation
|
Variant | |||
subject
|
S | Reference (Oncology Patient) | ||
|
hasMember
|
S | 2..2 | Reference (Genome Entity | Annotation Reference) | |
derivedFrom
|
S | 1 .. 2 | Reference ( Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence ) | Slice: Unordered, Open by pattern:reference |
component
|
1.. | |||
component:gene-studied
|
S | ..1 | ||
value[x]
|
||||
coding
|
||||
code
|
||||
|
text
|
Gene name | |||
|
component:cytogenetic-location
|
S | ..1 | Gene region | |
|
value[x]
|
||||
|
text
|
Gene region | |||
|
component:dna-chg
|
S | Incidence on the coding region of the gene | ||
|
value[x]
|
||||
|
coding
|
||||
|
code
|
||||
|
component:dna-chg-type
|
S | 1.. | Type of alteration | |
|
value[x]
|
Type of alteration Binding: Alteration Type Value Set ( required ) |
|||
|
coding
|
S | 1..1 | ||
|
code
|
||||
|
component:genomic-dna-chg
|
S | Genomic incidence | ||
|
value[x]
|
||||
|
coding
|
||||
|
code
|
||||
|
component:amino-acid-chg
|
S | Incidence on the protein | ||
|
value[x]
|
||||
|
coding
|
||||
|
code
|
||||
|
component:amino-acid-chg-type
|
S | Nomenclature of changes at protein-level | ||
|
value[x]
|
Nomenclature of changes at protein-level | |||
|
coding
|
||||
|
code
|
||||
|
component:mutation-prediction-software
|
S | 0..1 | ||
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: LP91038-7 |
|
|
text
|
Required Pattern: Prediction software | |||
value[x]
|
CodeableConcept |
Prediction software Binding: Mutation prediction Value Set ( example ) |
||
|
coding
|
||||
|
code
|
||||
|
component:mutation-prediction-score
|
S | 0..1 | ||
|
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: LP70194-3 |
|
|
text
|
Required Pattern: Prediction of the variation effect over the protein | |||
|
value[x]
|
Quantity | Prediction of the variation effect over the protein | ||
|
value
|
||||
|
component:mutation-prediction-evidence-value
|
S | 0..1 | ||
|
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: 93044-6 |
|
|
text
|
Required Pattern: Confidence score | |||
value[x]
|
string | Confidence score | ||
|
component:rna-chg
|
S | 0..1 | Incidence on the transcript | |
|
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 |
|
|
text
|
Required Pattern: Incidence on the transcript | |||
|
value[x]
|
CodeableConcept | Binding: todo ( extensible ) | ||
|
coding
|
||||
|
code
|
||||
|
component:on-splicing-site
|
S | 0..1 | Splice site | |
|
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: C0035687 |
|
|
value[x]
|
boolean | |||
|
Documentation for this format
|
||||