719583002: 17q11.2 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\17q11.2 microduplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\17q11.2 microduplication syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\17q11.2 microduplication syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\17q11.2 microduplication syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\17q11.2 microduplication syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q11.2 microduplication syndrome
\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\17q11.2 microduplication syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\17q11.2 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3316813015 17q11.2 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316814014 17q11.2 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3316815010 Trisomy 17q11.2 en Synonym Active Entire term case insensitive SNOMED CT core module

3316816011 Grisart Destree syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q11.2 microduplication syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
17q11.2 microduplication syndrome	Is a	17q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
17q11.2 microduplication syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
17q11.2 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
17q11.2 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
17q11.2 microduplication syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	1
17q11.2 microduplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
17q11.2 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
17q11.2 microduplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
17q11.2 microduplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
17q11.2 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
17q11.2 microduplication syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
17q11.2 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

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
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316814014	17q11.2 microduplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316815010	Trisomy 17q11.2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316816011	Grisart Destree syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module