1228890005: syndroom van 16p13.2-microdeletie (aandoening)

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

13607341000146116 microdeletie van chromosoom 16p13.2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607351000146118 syndroom van 16p13.2-microdeletie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607361000146115 16p13.2-microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607371000146114 syndroom van 16p13.2-microdeletie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607381000146111 monosomie 16p13.2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16p13.2 microdeletion syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Is a	Developmental delay	true	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Is a	Deletion of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
16p13.2 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
16p13.2 microdeletion syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
16p13.2 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
16p13.2 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
16p13.2 microdeletion syndrome (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
16p13.2 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
16p13.2 microdeletion syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
16p13.2 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
16p13.2 microdeletion syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
16p13.2 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
13607341000146116	microdeletie van chromosoom 16p13.2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607351000146118	syndroom van 16p13.2-microdeletie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607361000146115	16p13.2-microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607371000146114	syndroom van 16p13.2-microdeletie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607381000146111	monosomie 16p13.2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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