764435003: syndrome de microduplication 17q12 (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)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 17 (trouble)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\anomalie du chromosome 17 (trouble)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q12 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3649826017 Chromosome 17q12 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3649827014 17q12 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3649828016 17q12 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3649829012 17q12 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3649830019 Trisomy 17q12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

766831000241115 syndrome de microduplication 17q12 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

940821000172111 dup(17)(q12) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

989991000172116 syndrome de microduplication 17q12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3649599014 Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features. 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
17q12 microduplication syndrome	est un(e) (attribut)	17q partial trisomy syndrome (disorder)	true	Inferred relationship	Some
17q12 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	2
17q12 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
17q12 microduplication syndrome	localisation d'une constatation (attribut)	Chromosome pair 17 (cell structure)	true	Inferred relationship	Some	2
17q12 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	1
17q12 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
17q12 microduplication syndrome	localisation d'une constatation (attribut)	Long arm of chromosome (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
3649826017	Chromosome 17q12 duplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649827014	17q12 duplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649828016	17q12 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649829012	17q12 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649830019	Trisomy 17q12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766831000241115	syndrome de microduplication 17q12 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940821000172111	dup(17)(q12)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
989991000172116	syndrome de microduplication 17q12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3649599014	Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core