Genomics Reporting Implementation Guide
3.0.0 - release 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 3.0.0 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: 3.0.0
Active as of 2024-11-19 Computable Name: ConditionInheritanceModeVS

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

References

Logical Definition (CLD)

Generated Narrative: ValueSet condition-inheritance-mode-vs

  • 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 recessive inheritance
    HP:0001423X-linked dominant inheritance
    HP:0001426Multifactorial inheritance
    HP:0001427Mitochondrial inheritance
    HP:0001442Typified by somatic mosaicism
    HP:0001450Y-linked inheritance
    HP:0001470Sex-limited expression
    HP:0003743Genetic anticipation
    HP:0003745Sporadic
    HP:0010983Oligogenic inheritance
    HP:0012274Autosomal dominant inheritance with paternal imprinting
    HP:0012275Autosomal dominant inheritance with maternal imprinting
    HP:0025352Typically de novo
    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