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 disorder due to abnormality of chromosome number OR structure\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 disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17p partial trisomy syndrome\17p11.2 microduplication syndrome
• \Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\...
• \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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3481854019	17p11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3481855018	17p11.2 microduplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3481856017	Potocki Lupski syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3481857014	Trisomy 17p11.2	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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