718615003: 8q21.11 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\8q partial monosomy syndrome\8q21.11 microdeletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q21.11 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\8q partial monosomy syndrome\8q21.11 microdeletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q21.11 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312948011	8q21.11 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312949015	8q21.11 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3312950015	Monosomy 8q21.11	en	Synonym	Active	Case insensitive	SNOMED CT core
3312953018	Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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