764725008: 9p13 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 9 (disorder)\9p13 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9p13 microdeletion syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 9 (disorder)\9p13 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9p13 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654893011	Monosomy 9p13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654894017	9p13 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404363012	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by 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 (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404364018	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterised by 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 (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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