716381003: 8p23.1 microdeletion syndrome (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 8\8p partial monosomy syndrome\8p23.1 microdeletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p23.1 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p23.1 microdeletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p23.1 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305744017	8p23.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305745016	8p23.1 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305746015	Monosomy 8p23.1	en	Synonym	Active	Case insensitive	SNOMED CT core
3305747012	A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child.	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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