699310000: 22q13.3 deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\22q13.3 deletion syndrome
• \Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q13.3 deletion syndrome
• \Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\22q13.3 deletion syndrome
• \Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\22q13.3 deletion syndrome
• \Developmental disorder\Developmental delay\Global developmental delay\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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5453986012	A rare genetic neurodevelopmental disorder characterised by 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
5453987015	A rare genetic neurodevelopmental disorder characterized by 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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