770905005: Distal 7q11.23 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\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Distal 7q11.23 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\Distal deletion of long arm of chromosome 7\Distal 7q11.23 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\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Distal 7q11.23 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703360011	Distal 7q11.23 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3703361010	Distal 7q11.23 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3703362015	Distal monosomy 7q11.23	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3703363013	A rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	en	Definition	Active	Case sensitive	SNOMED CT core
3703364019	A rare chromosomal anomaly characterised by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioural abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviours, depression).	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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