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719427001: 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
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
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
3436791001000110 Mikroduplikationssyndrom 15q11q13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
949651000172111 syndrome de microduplication 15q11q13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963361000172111 dup(15)(q11q13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
949651000172111 syndrome de microduplication 15q11q13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963361000172111 dup(15)(q11q13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436791001000110 Mikroduplikationssyndrom 15q11q13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
15q11q13 microduplication syndrome (disorder) Is a 15q partial trisomy syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
15q11q13 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Finding site Chromosome pair 15 false Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Is a Partial duplication of long arm of chromosome 15 true Inferred relationship Existential restriction modifier (core metadata concept)
15q11q13 microduplication syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
15q11q13 microduplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
15q11q13 microduplication syndrome (disorder) Finding site Chromosome pair 15 true Inferred relationship Existential restriction modifier (core metadata concept) 2
15q11q13 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
15q11q13 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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