Source | hl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1) |
resourceType | ValueSet |
id | condition-inheritance-mode-vs |
canonical | http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs |
version | 2.1.0-SNAPSHOT |
status | active |
publisher | HL7 Clinical Genomics Working Group |
name | ConditionInheritanceModeVS |
title | Condition Inheritance Patterns |
date | 2023-07-25T14:43:25+00:00 |
experimental | false |
description | Value Set for specific transmission patterns of a condition in a pedigree |
jurisdictions | uv |
Usages |
|
This value set includes codes based on the following rules:
http://www.ebi.ac.uk/ols/ontologies/geno
Code | Display |
0000143 | Codominant inheritance |
0000889 | Unknown inheritance |
0000892 | Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
0000893 | Mitochondrial inheritance (primarily or exclusively homoplasmic) |
http://hpo.jax.org/app/
Code | Display |
0000006 | Autosomal dominant inheritance |
0000007 | Autosomal recessive inheritance |
0001417 | X-linked inheritance |
0001419 | X-linked inheritance (recessive) |
0001423 | X-linked inheritance (dominant) |
0001426 | Multifactorial inheritance |
0001427 | Mitochondrial inheritance |
0001428 | Somatic mutation |
0001450 | Y-linked inheritance |
0001470 | Autosomal dominant inheritance (sex-limited) |
0003743 | Genetic anticipation |
0003745 | Sporadic |
0010983 | Oligogenic |
0012274 | Autosomal dominant inheritance (with paternal imprinting) |
0012275 | Autosomal dominant inheritance (with maternal imprinting) |
0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) |
0031362 | Autosomal recessive inheritance (sex-limited) |
http://purl.obolibrary.org/obo/sepio-clingen
Code | Display |
97020 | Semidominant inheritance |
97021 | X-linked inheritance (primarily recessive with milder female expression) |
97022 | Autosomal dominant inheritance (with genetic anticipation) |
97023 | Autosomal recessive inheritance (with genetic anticipation) |
Produced 08 Sep 2023