719651000: syndrome de microdélétion 2p15p16.1 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \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 short arm of chromosome 2 (disorder)\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 2 (trouble)\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\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 short arm of chromosome 2 (disorder)\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\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 short arm of chromosome 2 (disorder)\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome (disorder)

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
3317247019	2p15p16.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317248012	2p15p16.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317249016	Monosomy 2p15p16.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754611000241113	syndrome de microdélétion 2p15p16.1 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
935011000172117	syndrome de microdélétion 2p15p16.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985931000172117	del(2)(p15p16.1)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317250016	A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.	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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