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1228890005: 16p13.2 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\16p13.2 microdeletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\16p13.2 microdeletion syndrome

\Disease\Chromosomal disorder\Congenital chromosomal disease\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 chromosomal disease\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 chromosomal disease\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 chromosomal disease\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, Primitive. 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 Case insensitive SNOMED CT core

5063630012 16p13.2 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

5063631011 Monosomy 16p13.2 en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

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