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

CodeSystem: Condition Inheritance Pattern

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode Version: 0.2.0
Active as of 2023-06-12 Realm: International flag Computable Name: ConditionInheritanceMode

A set of terms that describe the transmission pattern of a condition in a pedigree.

This Code system is referenced in the content logical definition of the following value sets:

This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode defines the following codes:

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