719578005: 16p13.11 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 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\16p13.11 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.11 microduplication syndrome (disorder)

\Developmental disorder\Congenital malformation\16p13.11 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

3316981010 16p13.11 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316982015 16p13.11 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316983013 Trisomy 16p13.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316987014 A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316988016 A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3898501000052115 16p13.11-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
16p13.11 microduplication syndrome (disorder)	Is a	partiellt trisomi 16p-syndrom	false	Inferred relationship	Some
16p13.11 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Is a	Duplication of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
16p13.11 microduplication syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
16p13.11 microduplication syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
16p13.11 microduplication syndrome (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
16p13.11 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
16p13.11 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
3316981010	16p13.11 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316982015	16p13.11 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316983013	Trisomy 16p13.11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316987014	A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316988016	A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3898501000052115	16p13.11-mikroduplikationssyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)