719583002: 17q11.2 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\17q11.2 microduplication syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\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 chromosomal disease\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 chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q11.2 microduplication syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\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 chromosomal disease\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym	Active	Case insensitive	SNOMED CT core
3316816011	Grisart Destree syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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