NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

ValueSet: Condition Inheritance Pattern

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/condition-inheritance-vs Version: 0.2.0
Active as of 2023-09-15 Realm: International flag Computable Name: ConditionInheritanceModeVS

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

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

 

Expansion

This value set contains 25 concepts

Expansion based on codesystem Condition Inheritance Pattern v0.2.0 (CodeSystem)

CodeSystemDisplay
  GENO:0000143https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeCodominant inheritance
  GENO:0000889https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeUnknown inheritance
  GENO:0000892https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeMitochondrial inheritance (primarily or exclusively heteroplasmic)
  GENO:0000893https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeMitochondrial inheritance (primarily or exclusively homoplasmic)
  HP:0000006https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance
  HP:0000007https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal recessive inheritance
  HP:0001417https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeX-linked inheritance
  HP:0001419https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeX-linked inheritance (recessive)
  HP:0001423https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeX-linked inheritance (dominant)
  HP:0001426https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeMultifactorial inheritance
  HP:0001427https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeMitochondrial inheritance
  HP:0001428https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeSomatic mutation
  HP:0001450https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeY-linked inheritance
  HP:0001470https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance (sex-limited)
  HP:0003743https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeGenetic anticipation
  HP:0003745https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeSporadic
  HP:0010983https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeOligogenic
  HP:0012274https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance (with paternal imprinting)
  HP:0012275https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance (with maternal imprinting)
  HP:0025352https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance (primarily or exclusively de novo)
  HP:0031362https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal recessive inheritance (sex-limited)
  SEPIO-CG:97020https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeSemidominant inheritance
  SEPIO-CG:97021https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeX-linked inheritance (primarily recessive with milder female expression)
  SEPIO-CG:97022https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal dominant inheritance (with genetic anticipation)
  SEPIO-CG:97023https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceModeAutosomal 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
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