770905005: syndrome de microdélétion 7q11.23 distale (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\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)
• \anomalie du chromosome 7 (trouble)\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome (disorder)
• \Congenital disease\Congenital malformation\Distal 7q11.23 microdeletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\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)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 7 (trouble)\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal 7q11.23 microdeletion syndrome (disorder)
• \trouble du développement\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
1008371000172119	del(7)(q11.23) distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
770001000241113	syndrome de microdélétion 7q11.23 distale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
966041000172118	syndrome de microdélétion 7q11.23 distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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