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

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\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

\Congenital disease (disorder)\Congenital malformation\Chromosome 16p11.2 deletion syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\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
\Congenital disease (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)\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:

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	kongenital anomali	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
Proximal 16p11.2 microdeletion syndrome (disorder)	Is a	False	Chromosome 16p11.2 deletion syndrome	Inferred relationship	Some

This concept is not in any reference sets

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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
3658561000052115	16p11.2-deletionssyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)