719427001: 15q11q13 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Congenital malformation\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
• \Developmental disorder\Congenital malformation\The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.

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
3316979013	Syndrome characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316980011	Syndrome characterised by neurobehavioural disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioural disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402102011	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402103018	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterised by neurobehavioural disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316309017	15q11q13 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316310010	15q11q13 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316978017	Trisomy 15q11q13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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