764725008: 9p13 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 9\9p13 microdeletion syndrome
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9p13 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 9\9p13 microdeletion syndrome
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9p13 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654892018	9p13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654893011	Monosomy 9p13	en	Synonym	Active	Case insensitive	SNOMED CT core
3654894017	9p13 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654655016	A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	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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