726362005: Partial trisomy of chromosome 22 (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 22\Trisomy 22\Partial trisomy of chromosome 22

\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22

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

3498333014 Partial trisomy of chromosome 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498334015 Duplication of chromosome 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498335019 Partial trisomy of chromosome 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489761000241119 trisomie partielle du chromosome 22 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 22	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
Partial trisomy of chromosome 22	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
Partial trisomy of chromosome 22	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 22	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 22	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
Partial trisomy of chromosome 22	Is a	Trisomy 22	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
22q partial trisomy (disorder)	Is a	True	Partial trisomy of chromosome 22	Inferred relationship	Some
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal	Is a	True	Partial trisomy of chromosome 22	Inferred relationship	Some

This concept is not in any reference sets