719576009: 16p11.2p12.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \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\16p11.2p12.2 microdeletion syndrome
• \Disease\Chromosomal disorder\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\16p11.2p12.2 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disease\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\16p11.2p12.2 microdeletion syndrome
• \Disease\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\16p11.2p12.2 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316969011	16p11.2p12.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316970012	16p11.2p12.2 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316971011	Monosomy 16p11.2p12.2	en	Synonym	Active	Case insensitive	SNOMED CT core
3316972016	A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination.	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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