773326003: 7q31 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 7\7q partial monosomy\7q31 microdeletion syndrome
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\7q31 microdeletion syndrome
• \Congenital disease\Congenital anomaly\7q31 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 7\7q partial monosomy\7q31 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\7q31 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\7q31 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723182018	Monosomy 7q31	en	Synonym	Active	Case insensitive	SNOMED CT core
3723183011	7q31 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723184017	7q31 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723185016	A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	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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