699310000: 22q13.3 deletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \anomalie du chromosome 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Congenital disease\Congenital malformation\22q13.3 deletion syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \trouble du développement\Congenital malformation\22q13.3 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983744011	Phelan-McDermid syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983765017	22q13.3 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983769011	Monosomy 22q13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983770012	22q13.3 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555258012	A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start