719580004: 16q24.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Fetal and/or neonatal disorder\Congenital disease (disorder)\...
• \Congenital malformation\16q24.3 microdeletion syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome (disorder)
• \Developmental disorder\Congenital malformation\16q24.3 microdeletion syndrome (disorder)

Status: current. Date: 30-Jan 2017

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316989012	16q24.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316990015	16q24.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316991016	Monosomy 16q24.3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316992011	A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402163016	16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

GB English

SNOMED RT Concept

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

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