773346008: syndrome de microdélétion 20p13 (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 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome
• \Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\20p13 microdeletion syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\20p13 microdeletion syndrome

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
1001921000172112	del(20)(p13)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723250014	20p13 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723251013	20p subtelomeric deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723252018	Monosomy 20p13	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723253011	20p13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
771161000241117	syndrome de microdélétion 20p13 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
984801000172118	syndrome de microdélétion 20p13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723254017	A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	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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