699307007: Chromosome 16p11.2 deletion syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\...

\Congenital malformation\Chromosome 16p11.2 deletion syndrome

\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)\Chromosome 16p11.2 deletion syndrome

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Chromosome 16p11.2 deletion syndrome

\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)\Chromosome 16p11.2 deletion syndrome

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Chromosome 16p11.2 deletion syndrome

\Developmental disorder\Congenital malformation\Chromosome 16p11.2 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2983646018 Chromosome 16p11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983663019 16p11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983684012 Chromosome 16p11.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6015471000241114 syndrome de délétion du chromosome 16p11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6015481000241111 syndrome de délétion 16p11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome 16p11.2 deletion syndrome	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Is a	Deletion of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Chromosome 16p11.2 deletion syndrome	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Chromosome 16p11.2 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Chromosome 16p11.2 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	Is a	False	Chromosome 16p11.2 deletion syndrome	Inferred relationship	Some

This concept is not in any reference sets