Error | ValueSet.version | Values for version differ: '3.0.0-ballot' vs '3.0.0' |
Information | ValueSet.date | Values for date differ: '2023-12-18T22:45:59+00:00' vs '2024-12-12T21:16:09+00:00' |
Warning | ValueSet.compose.include[0].concept[3] | Code HP:0001419 display changed from 'X-linked inheritance (recessive)' to 'X-linked recessive inheritance' |
Warning | ValueSet.compose.include[0].concept[4] | Code HP:0001423 display changed from 'X-linked inheritance (dominant)' to 'X-linked dominant inheritance' |
Error | ValueSet.compose.include[0] | Code HP:0001428 removed |
Warning | ValueSet.compose.include[0].concept[9] | Code HP:0001470 display changed from 'Autosomal dominant inheritance (sex-limited)' to 'Sex-limited expression' |
Warning | ValueSet.compose.include[0].concept[12] | Code HP:0010983 display changed from 'Oligogenic' to 'Oligogenic inheritance' |
Warning | ValueSet.compose.include[0].concept[13] | Code HP:0012274 display changed from 'Autosomal dominant inheritance (with paternal imprinting)' to 'Autosomal dominant inheritance with paternal imprinting' |
Warning | ValueSet.compose.include[0].concept[14] | Code HP:0012275 display changed from 'Autosomal dominant inheritance (with maternal imprinting)' to 'Autosomal dominant inheritance with maternal imprinting' |
Warning | ValueSet.compose.include[0].concept[15] | Code HP:0025352 display changed from 'Autosomal dominant inheritance (primarily or exclusively de novo)' to 'Typically de novo' |
Error | ValueSet.compose.include[0] | Code HP:0031362 removed |
Error | ValueSet.compose.include[0] | Code HP:0001442 added |
Name | Value | Comments | |
---|---|---|---|
compose.inactive | |||
compose.lockedDate | |||
copyright | |||
date | 2023-12-18T22:45:59+00:00 | 2024-12-12T21:16:09+00:00 |
|
description | Value Set for specific transmission patterns of a condition in a pedigree | ||
experimental | false | ||
immutable | |||
jurisdiction | |||
jurisdiction[0] | http://unstats.un.org/unsd/methods/m49/m49.htm#001 | ||
name | ConditionInheritanceModeVS | ||
publisher | HL7 International / Clinical Genomics | ||
purpose | |||
status | active | ||
title | Condition Inheritance Patterns | ||
url | http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs | ||
version | 3.0.0-ballot | 3.0.0 |
|
Item | Property | Value | Comments | ||
---|---|---|---|---|---|
include | http://human-phenotype-ontology.org | ||||
Concept | HP:0000006 | Autosomal dominant inheritance | |||
Concept | HP:0000007 | Autosomal recessive inheritance | |||
Concept | HP:0001417 | X-linked inheritance | |||
Concept | HP:0001419 | X-linked inheritance (recessive) | X-linked recessive inheritance | ||
Concept | HP:0001423 | X-linked inheritance (dominant) | X-linked dominant inheritance | ||
Concept | HP:0001426 | Multifactorial inheritance | |||
Concept | HP:0001427 | Mitochondrial inheritance | |||
Concept | HP:0001428 | Version: Somatic mutation |
| ||
Concept | HP:0001450 | Y-linked inheritance | |||
Concept | HP:0001470 | Autosomal dominant inheritance (sex-limited) | Sex-limited expression | ||
Concept | HP:0003743 | Genetic anticipation | |||
Concept | HP:0003745 | Sporadic | |||
Concept | HP:0010983 | Oligogenic | Oligogenic inheritance | ||
Concept | HP:0012274 | Autosomal dominant inheritance (with paternal imprinting) | Autosomal dominant inheritance with paternal imprinting | ||
Concept | HP:0012275 | Autosomal dominant inheritance (with maternal imprinting) | Autosomal dominant inheritance with maternal imprinting | ||
Concept | HP:0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) | Typically de novo | ||
Concept | HP:0031362 | Version: Autosomal recessive inheritance (sex-limited) |
| ||
Concept | HP:0032113 | Semidominant inheritance | |||
Concept | HP:0001442 | Version: Typified by somatic mosaicism |
|
Unable to generate expansion - see errors