699310000: 22q13.3 deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 22\22q partial monosomy\22q13.3 deletion syndrome
• \Anomaly of chromosome pair 22\Deletion of part of chromosome 22\22q partial monosomy\22q13.3 deletion syndrome
• \Congenital disease\Congenital anomaly\22q13.3 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 22\22q partial monosomy\22q13.3 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Deletion of part of chromosome 22\22q partial monosomy\22q13.3 deletion syndrome
• \Developmental disorder\Congenital anomaly\22q13.3 deletion syndrome

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983744011	Phelan-McDermid syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2983765017	22q13.3 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2983769011	Monosomy 22q13	en	Synonym	Active	Case insensitive	SNOMED CT core
2983770012	22q13.3 deletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start