1228890005: 16p13.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\16p13.2 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\16p13.2 microdeletion syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\16p13.2 microdeletion syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\16p13.2 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\16p13.2 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\16p13.2 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\16p13.2 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\16p13.2 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\16p13.2 microdeletion syndrome
• \Disease\Developmental disorder\Developmental delay\16p13.2 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5063629019	16p13.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5063630012	16p13.2 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5063631011	Monosomy 16p13.2	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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