719686003: Distal monosomy 10p (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10\10p partial monosomy syndrome\Distal monosomy 10p
• \Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10p partial monosomy syndrome\Distal monosomy 10p
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10\10p partial monosomy syndrome\Distal monosomy 10p
• \Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10p partial monosomy syndrome\Distal monosomy 10p

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317485019	Distal monosomy 10p (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317486018	Distal monosomy 10p	en	Synonym	Active	Case insensitive	SNOMED CT core
3317487010	Distal 10p deletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3317488017	Telomeric deletion 10p	en	Synonym	Active	Case insensitive	SNOMED CT core
3317489013	A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation.	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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