Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot 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 3.0.1-SNAPSHOT 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

ValueSet: Condition Inheritance Patterns

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs Version: 3.0.1-SNAPSHOT
Active as of 2024-05-15 Computable Name: ConditionInheritanceModeVS

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

References

Logical Definition (CLD)

  • Include these codes as defined in http://human-phenotype-ontology.org
    CodeDisplay
    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)
    HP:0032113Semidominant inheritance

 

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
System 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