719665003: 5q35 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\5q35 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\5q35 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\5q35 microduplication syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3317303010	5q35 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317304016	Trisomy 5q35	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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