719600006: syndrome de microdélétion 1p21.3 (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 1 (disorder)\1p partial monosomy\syndrome de microdélétion 1p21.3
• \Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\syndrome de microdélétion 1p21.3
• \trouble mental\troubles mentaux du développement\...
• \Disorder of psychological development\Autism spectrum disorder\Autistic disorder (disorder)\syndrome de microdélétion 1p21.3
• \Intellectual disability\syndrome de microdélétion 1p21.3
• \Congenital disease\Congenital malformation\syndrome de microdélétion 1p21.3
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\syndrome de microdélétion 1p21.3
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\syndrome de microdélétion 1p21.3
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Disorder of psychological development\Autism spectrum disorder\Autistic disorder (disorder)\syndrome de microdélétion 1p21.3
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\syndrome de microdélétion 1p21.3
• \trouble du développement\Congenital malformation\syndrome de microdélétion 1p21.3

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1002731000172116	del(1)p(21.3)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1009411000172112	syndrome de microdélétion 1p21.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317088013	1p21.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317090014	1p21.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317106013	Monosomy 1p21.3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754541000241110	syndrome de microdélétion 1p21.3 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317107016	An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways.	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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