719583002: 17q11.2 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
• \Disease\Developmental disorder\Developmental hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317001017	Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402166012	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402167015	17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316816011	Grisart Destree syndrome	en	Synonym (core metadata concept)	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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