719580004: 16q24.3 microdeletion 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 16\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome
• \Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome
• \Congenital disease\Congenital anomaly\16q24.3 microdeletion 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 16\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\16q24.3 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316989012	16q24.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316990015	16q24.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316991016	Monosomy 16q24.3	en	Synonym	Active	Case insensitive	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	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

Unit of use quantity reference set

Description inactivation indicator reference set

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