Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: DiagnosticImplication - Detailed Descriptions

Active as of 2024-12-12

Definitions for the diagnostic-implication resource profile.

Guidance on how to interpret the contents of this table can be found here

0. Observation
ShortDiagnostic Implication
2. Observation.extension:genomic-risk-assessment
Slice Namegenomic-risk-assessment
Control0..*
TypeExtension(Genomic Risk Assessment) (Extension Type: Reference(RiskAssessment))
4. Observation.code
Shortdiagnostic-implication
Pattern Value{
  "coding" : [{
    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "code" : "diagnostic-implication"
  }]
}
6. Observation.component:predicted-phenotype
Slice Namepredicted-phenotype
Definition

An observable characteristic (e.g., condition; disease) of an individual, as predicted by the presence of associated molecular finding(s)associated with the variant. A code set is not specified, but it is ideal to use terms related to medical findings. Some examples are SNOMED CT descendants of 'Clinical finding' (404684003), ICD-10-CM chapters 1-18 (codes starting with letters A-R), and/or all of Human Phenotype Ontology (HPO). For example, if an individual's variant is associated with Type I Ehlers-Danlos syndrome, a valid response from SNOMED CT would be 'Ehlers-Danlos syndrome, type 1 (code 83470009)'.

ShortPredicted phenotype
Control0..*
8. Observation.component:predicted-phenotype.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
10. Observation.component:predicted-phenotype.code
Short81259-4
Pattern Value{
  "coding" : [{
    "system" : "http://loinc.org",
    "code" : "81259-4"
  }]
}
12. Observation.component:predicted-phenotype.value[x]
ShortPhenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO
Control1..?
Binding

Multiple bindings accepted

TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
14. Observation.component:mode-of-inheritance
Slice Namemode-of-inheritance
Definition

The transmission pattern of the condition/phenotype in a pedigree. Values originally curated by GA4GH.

ShortMode of Inheritance
Control0..1
16. Observation.component:mode-of-inheritance.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
18. Observation.component:mode-of-inheritance.code
Shortcondition-inheritance
Pattern Value{
  "coding" : [{
    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "code" : "condition-inheritance"
  }]
}
20. Observation.component:mode-of-inheritance.value[x]
ShortAutosomal dominant | Autosomal recessive | X-linked | ... (more)
Control1..?
BindingThe codes SHOULD be taken from Condition Inheritance Patterns
(preferred to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]