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1229873009: 17q24.2 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\17q24.2 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\17q24.2 microdeletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\17q24.2 microdeletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\17q24.2 microdeletion syndrome

\Disease\Genetic disease\17q24.2 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 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\17q24.2 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 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\17q24.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\17q24.2 microdeletion syndrome
\Disease\Developmental disorder\Developmental delay\17q24.2 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

5065548011 17q24.2 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5065549015 17q24.2 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q24.2 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
17q24.2 microdeletion syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
17q24.2 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 17	true	Inferred relationship	Existential restriction modifier
17q24.2 microdeletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
17q24.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
17q24.2 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
17q24.2 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
17q24.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
17q24.2 microdeletion syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	2
17q24.2 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
17q24.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
17q24.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
17q24.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
17q24.2 microdeletion syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
17q24.2 microdeletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
17q24.2 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
17q24.2 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
17q24.2 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	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
5065548011	17q24.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5065549015	17q24.2 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module