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 disorder due to abnormality of chromosome number OR structure\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 disorder due to abnormality of chromosome number OR structure\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 malformation\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 malformation\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 disorder due to abnormality of chromosome number OR structure\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 disorder due to abnormality of chromosome number OR structure\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 malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\16p11.2p12.2 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316969011	16p11.2p12.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316970012	16p11.2p12.2 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316971011	Monosomy 16p11.2p12.2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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