718689000: Distal trisomy 10q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q
• \Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal trisomy 10q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313220011	Distal trisomy 10q (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313221010	Distal trisomy 10q	en	Synonym	Active	Case insensitive	SNOMED CT core
3313227014	Distal duplication 10q	en	Synonym	Active	Case insensitive	SNOMED CT core
3313228016	Distal trisomy of the long arm of chromosome 10 results in characteristics of pre and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. To date, approximately 40 cases have been reported. Most cases are diagnosed in infancy or in childhood. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. The duplicated region almost always includes 10qter, with the most frequent proximal breakpoint at 10q24 (with variation from q22 to q25). Interstitial duplications of 10q have also 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

Description inactivation indicator reference set

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