734016004: 17p11.2 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 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3481854019	17p11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3481855018	17p11.2 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3481856017	Potocki Lupski syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3481857014	Trisomy 17p11.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3481858016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated.	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

Back to Start