9527009: Tetrasomy 12p syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\tétrasomie 12p (trouble)
• \trouble mental\troubles mentaux du développement\Intellectual disability\tétrasomie 12p (trouble)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\tétrasomie 12p (trouble)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\tétrasomie 12p (trouble)
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\tétrasomie 12p (trouble)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\tétrasomie 12p (trouble)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1011001000172115	isochromosome 12p en mosaïque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
16673017	Killian-Teschler-Nicola syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16674011	Pallister mosaic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3010792013	Pallister-Killian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
392201000241111	tétrasomie 12p (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
4589822012	Isochromosome 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589823019	Tetrasomy 12p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589824013	Tetrasomy 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
917881000172118	tétrasomie 12p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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