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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Fetal and/or neonatal disorder\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 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	Deletion of part of autosome	false	Inferred relationship	Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Occurrence	Congenital	true	Inferred relationship	Some	2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Occurrence	Congenital	true	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	Chromosome pair 16	false	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	Deletion of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Occurrence	Congenital	true	Inferred relationship	Some	1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	Face structure	true	Inferred relationship	Some	3
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5402157013	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402158015	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterised by developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316969011	16p11.2p12.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316970012	16p11.2p12.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316971011	Monosomy 16p11.2p12.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
945531000172116	syndrome de microdélétion 16p11.2p12.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981841000172119	del(16)(p11.2p12.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436851001000110	Mikrodeletionssyndrom 16p11.2p12.2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module