1228890005: 16p13.2 microdeletion syndrome (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5063629019	16p13.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063630012	16p13.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063631011	Monosomy 16p13.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063640010	A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5063641014	A partial deletion of the short arm of chromosome 16 characterised by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioural profile includes impulsivity, compulsivity, stubbornness, manipulative behaviours, temper tantrums, and aggressive behaviours.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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