Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Extension: ACMG Pathogenicity Classification

Official URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification Version: 0.1.0
Draft as of 2024-06-18 Computable Name: AcmgPathogenicityClassification

Copyright/Legal: Global Alliance for Genomics and Health

One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE.

Context of Use

This extension may be used on the following element(s):

  • Element ID Element

Usage info

Usage:

  • This Extension is not used by any profiles in this Implementation Guide

Formal Views of Extension Content

Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.

This structure is derived from Extension

Summary

Simple Extension of type CodeableConcept: One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE.

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension ACMG Pathogenicity Classification
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification"
... value[x] 1..1 CodeableConcept Value of extension
Binding: ACMG Pathogenicity Classification Value Set (required)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension ACMG Pathogenicity Classification
... id 0..1 string Unique id for inter-element referencing
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification"

doco Documentation for this format

This structure is derived from Extension

Summary

Simple Extension of type CodeableConcept: One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE.

Differential View

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension ACMG Pathogenicity Classification
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification"
... value[x] 1..1 CodeableConcept Value of extension
Binding: ACMG Pathogenicity Classification Value Set (required)

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension ACMG Pathogenicity Classification
... id 0..1 string Unique id for inter-element referencing
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification"

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

PathConformanceValueSetURI
Extension.value[x]requiredAcmgPathogenicityClassificationVS
http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs
from this IG

Constraints

IdGradePath(s)DetailsRequirements
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()