Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions

ValueSet: Condition Inheritance Patterns

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs
Version:2.0.0
Name:ConditionInheritanceModeVS
Title:Condition Inheritance Patterns
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

Value Set for specific transmission patterns of a condition in a pedigree

Publisher:HL7 Clinical Genomics Working Group
Source Resource:XML / JSON / Turtle

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

  • Include these codes as defined in http://www.ebi.ac.uk/ols/ontologies/geno
    CodeDisplay
    0000143Codominant inheritance
    0000889Unknown inheritance
    0000892Mitochondrial inheritance (primarily or exclusively heteroplasmic)
    0000893Mitochondrial inheritance (primarily or exclusively homoplasmic)
  • Include these codes as defined in http://hpo.jax.org/app/
    CodeDisplay
    0000006Autosomal dominant inheritance
    0000007Autosomal recessive inheritance
    0001417X-linked inheritance
    0001419X-linked inheritance (recessive)
    0001423X-linked inheritance (dominant)
    0001426Multifactorial inheritance
    0001427Mitochondrial inheritance
    0001428Somatic mutation
    0001450Y-linked inheritance
    0001470Autosomal dominant inheritance (sex-limited)
    0003743Genetic anticipation
    0003745Sporadic
    0010983Oligogenic
    0012274Autosomal dominant inheritance (with paternal imprinting)
    0012275Autosomal dominant inheritance (with maternal imprinting)
    0025352Autosomal dominant inheritance (primarily or exclusively de novo)
    0031362Autosomal recessive inheritance (sex-limited)
  • Include these codes as defined in http://purl.obolibrary.org/obo/sepio-clingen
    CodeDisplay
    97020Semidominant inheritance
    97021X-linked inheritance (primarily recessive with milder female expression)
    97022Autosomal dominant inheritance (with genetic anticipation)
    97023Autosomal recessive inheritance (with genetic anticipation)

 

Expansion

No Expansion for this valueset (Unknown Code System)

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code