734016004: syndrome de microduplication 17p11.2 (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 17 (trouble)\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\anomalie du chromosome 17 (trouble)\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome (disorder)\17p11.2 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3481854019 17p11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3481855018 17p11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3481856017 Potocki Lupski syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3481857014 Trisomy 17p11.2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

763511000241115 syndrome de microduplication 17p11.2 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

895851000172113 syndrome de Potocki-Lupski fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

974021000172113 syndrome de microduplication 17p11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3481858016 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17p11.2 microduplication syndrome (disorder)	est un(e) (attribut)	17p partial trisomy syndrome (disorder)	true	Inferred relationship	Some
17p11.2 microduplication syndrome (disorder)	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	1
17p11.2 microduplication syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
17p11.2 microduplication syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 17 (cell structure)	true	Inferred relationship	Some	1

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
3481854019	17p11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481855018	17p11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481856017	Potocki Lupski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3481857014	Trisomy 17p11.2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
763511000241115	syndrome de microduplication 17p11.2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895851000172113	syndrome de Potocki-Lupski	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
974021000172113	syndrome de microduplication 17p11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3481858016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core