770595006: syndrome du chromosome 12 en anneau (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\...
• \Ring chromosome\Ring chromosome 12 syndrome
• \Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Ring chromosome 12 syndrome
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 12 syndrome
• \Congenital disease\maladie chromosomique congénitale\Ring chromosome\Ring chromosome 12 syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Ring chromosome 12 syndrome
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 12 syndrome

Status: current, 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
3701490011	Ring chromosome 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701491010	Ring chromosome 12 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701492015	Ring chromosome 12 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769481000241113	syndrome du chromosome 12 en anneau (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931611000172110	chromosome 12 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
973281000172118	syndrome du chromosome 12 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3701256017	A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada French language reference set (foundation metadata concept)

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