Source | hl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1) |
resourceType | StructureDefinition |
id | diagnostic-implication |
canonical | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication |
version | 2.1.0-SNAPSHOT |
status | active |
publisher | HL7 Clinical Genomics Working Group |
name | DiagnosticImplication |
title | Diagnostic Implication |
date | 2023-07-25T14:43:25+00:00 |
description | Observation stating a linkage between one or more genotype/haplotype/variation Observations and evidence for or against a particular disease, condition, or cancer diagnosis. |
copyright | This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. |
jurisdictions | uv |
fhirVersion | 4.0.1 |
kind | resource |
abstract | false |
sdTtype | Observation |
derivation | constraint |
base | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/implication |
Usages |
|
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | GenomicImplication | Diagnostic Implication | ||
genomics-risk-assessment | 0..* | Reference ( RiskAssessment ) |
Genomics Risk Assessment
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment |
|
code |
diagnostic-implication 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs |
|
code | 1..1 | code |
Symbol in syntax defined by the system Fixed Value: diagnostic-implication |
|
component:predicted-phenotype | 0..* |
Predicted phenotype |
||
code |
81259-4 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: 81259-4 |
|
value[x] | 1.. | CodeableConcept |
Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO Binding: todo ( example ): Multiple bindings accepted |
|
component:mode-of-inheritance | 0..1 | Mode of Inheritance | ||
code |
condition-inheritance 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs |
|
code | 1..1 | code |
Symbol in syntax defined by the system Fixed Value: condition-inheritance |
|
value[x] | 1.. | CodeableConcept |
Autosomal dominant | Autosomal recessive | X-linked | ... (more) Binding: Condition Inheritance Patterns ( preferred ) |
|
component:clinical-significance | 0..1 | Clinical significance | ||
code |
53037-8 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: 53037-8 |
|
value[x] | 1.. | CodeableConcept |
Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: todo ( extensible ) |
|
Documentation for this format |
Produced 08 Sep 2023