770905005: Distal 7q11.23 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Distal 7q11.23 microdeletion syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 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 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome (disorder)
• \Developmental disorder\Congenital malformation\Distal 7q11.23 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703361010	Distal 7q11.23 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703362015	Distal monosomy 7q11.23	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404957011	Distal 7q11.23 microdeletion syndrome is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404958018	Distal 7q11.23 microdeletion syndrome is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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