726360002: Partial trisomy of chromosome 20 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498327017 Partial trisomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498328010 Duplication of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498329019 Partial trisomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

902941000172119 duplication partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1019021000172114 trisomie partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of chromosome 20 (disorder)	Is a	Anomaly of chromosome pair 20	true	Inferred relationship	Some
Partial trisomy of chromosome 20 (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 20 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 20 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 20 (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
20q partial trisomy (disorder)	Is a	True	Partial trisomy of chromosome 20 (disorder)	Inferred relationship	Some
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	Is a	True	Partial trisomy of chromosome 20 (disorder)	Inferred relationship	Some

This concept is not in any reference sets