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

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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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