716387004: syndrome de microdélétion 2q31.1 (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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \anomalie du chromosome 2 (trouble)\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\2q31.1 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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 2 (trouble)\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\2q31.1 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305895013	2q31.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305896014	2q31.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305897017	Monosomy 2q31.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749671000241116	syndrome de microdélétion 2q31.1 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
946521000172110	del(2)(q31.1)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996271000172118	syndrome de microdélétion 2q31.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3305898010	A well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305899019	A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.	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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