718227006: Proximal 16p11.2 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\Deletion of part of short arm of chromosome 16\Proximal 16p11.2 microdeletion syndrome
• \Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Proximal 16p11.2 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Proximal 16p11.2 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\Deletion of part of short arm of chromosome 16\Proximal 16p11.2 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Proximal 16p11.2 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Proximal 16p11.2 microdeletion syndrome
• \Developmental disorder\Developmental delay\Proximal 16p11.2 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311591010	Proximal 16p11.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3311592015	Proximal 16p11.2 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311593013	A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive.	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

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