StructureDefinition-diagnostic-implication

Sourcehl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
iddiagnostic-implication
canonicalhttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
version2.1.0-SNAPSHOT
statusactive
publisherHL7 Clinical Genomics Working Group
nameDiagnosticImplication
titleDiagnostic Implication
date2023-07-25T14:43:25+00:00
descriptionObservation stating a linkage between one or more genotype/haplotype/variation Observations and evidence for or against a particular disease, condition, or cancer diagnosis.
copyrightThis 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.
jurisdictionsuv
fhirVersion4.0.1
kindresource
abstractfalse
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/implication
Usages
Name Flags Card. Type Description & Constraints doco
. . 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 )

doco Documentation for this format

Produced 08 Sep 2023