719583002: syndrome de microduplication 17q11.2 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Developmental hereditary disorder\17q11.2 microduplication syndrome (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q11.2 microduplication syndrome (disorder)
• \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)\17q11.2 microduplication syndrome (disorder)
• \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)\17q11.2 microduplication syndrome (disorder)
• \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)\17q11.2 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q11.2 microduplication syndrome (disorder)
• \trouble mental\troubles mentaux du développement\Intellectual disability\17q11.2 microduplication syndrome (disorder)
• \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)\17q11.2 microduplication syndrome (disorder)
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome (disorder)\17q11.2 microduplication syndrome (disorder)
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\17q11.2 microduplication syndrome (disorder)
• \trouble du développement\Developmental hereditary disorder\17q11.2 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
1019281000172116	dup(17)(q11.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316816011	Grisart Destree syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
754491000241117	syndrome de microduplication 17q11.2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
953701000172115	syndrome de microduplication 17q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317001017	Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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