719665003: syndrome de microduplication 5q35 (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 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 5 (trouble)\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\5q35 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 5 (trouble)\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\5q35 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
3317302017	5q35 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317303010	5q35 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317304016	Trisomy 5q35	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754711000241118	syndrome de microduplication 5q35 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
906661000172111	syndrome de microduplication 5q35	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
974601000172112	dup(5)(q35)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317305015	The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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