719427001: 15q11q13 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\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)\15q11q13 microduplication syndrome (disorder)
\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)\15q11q13 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q11q13 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q11q13 microduplication syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\15q11q13 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q11q13 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q11q13 microduplication syndrome (disorder)

\Developmental disorder\Congenital malformation\15q11q13 microduplication syndrome (disorder)

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

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

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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

3923631000052116 15q11q13-mikroduplikationssyndromet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
15q11q13 microduplication syndrome (disorder)	Is a	partiellt trisomi 15q-syndrom	false	Inferred relationship	Some
15q11q13 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
15q11q13 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
15q11q13 microduplication syndrome (disorder)	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
15q11q13 microduplication syndrome (disorder)	Is a	Partial duplication of long arm of chromosome 15 (disorder)	true	Inferred relationship	Some
15q11q13 microduplication syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
15q11q13 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
15q11q13 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
15q11q13 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
15q11q13 microduplication syndrome (disorder)	Finding site	Chromosome pair 15	true	Inferred relationship	Some	2
15q11q13 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
15q11q13 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
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
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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3923631000052116	15q11q13-mikroduplikationssyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)