726707004: 7q11.23 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome
• \Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\7q11.23 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3451928015	7q11.23 microduplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451929011	7q11.23 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451930018	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7. The disorder has a highly variable phenotype that typically manifests with mild to moderate intellectual delay (patients could be in the normal range), speech (particularly expressive language disorders) and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	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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