Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

ValueSet: Condition Inheritance Pattern

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-vs
Version:1.1.0
Name:ConditionInheritanceModeVS
Title:Condition Inheritance Pattern
Status:Active as of 2021-04-13T19:13:37+00:00
Definition:

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

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

References

Logical Definition (CLD)

 

Expansion

This value set contains 25 concepts

Expansion based on Condition Inheritance Pattern v1.1.0 (CodeSystem)

All codes from system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode

CodeDisplayDefinition
GENO:0000143Codominant inheritance
GENO:0000889Unknown inheritance
GENO:0000892Mitochondrial inheritance (primarily or exclusively heteroplasmic)
GENO:0000893Mitochondrial inheritance (primarily or exclusively homoplasmic)
HP:0000006Autosomal dominant inheritance
HP:0000007Autosomal recessive inheritance
HP:0001417X-linked inheritance
HP:0001419X-linked inheritance (recessive)
HP:0001423X-linked inheritance (dominant)
HP:0001426Multifactorial inheritance
HP:0001427Mitochondrial inheritance
HP:0001428Somatic mutation
HP:0001450Y-linked inheritance
HP:0001470Autosomal dominant inheritance (sex-limited)
HP:0003743Genetic anticipation
HP:0003745Sporadic
HP:0010983Oligogenic
HP:0012274Autosomal dominant inheritance (with paternal imprinting)
HP:0012275Autosomal dominant inheritance (with maternal imprinting)
HP:0025352Autosomal dominant inheritance (primarily or exclusively de novo)
HP:0031362Autosomal recessive inheritance (sex-limited)
SEPIO-CG:97020Semidominant inheritance
SEPIO-CG:97021X-linked inheritance (primarily recessive with milder female expression)
SEPIO-CG:97022Autosomal dominant inheritance (with genetic anticipation)
SEPIO-CG:97023Autosomal recessive inheritance (with genetic anticipation)

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