765488003: syndrome du chromosome 6 en anneau (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\...
• \Ring chromosome\Ring chromosome 6 syndrome (disorder)
• \Anomaly of chromosome pair\anomalie du chromosome 6 (trouble)\Ring chromosome 6 syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 6 syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Ring chromosome\Ring chromosome 6 syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 6 (trouble)\Ring chromosome 6 syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 6 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658963012	Ring chromosome 6 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3658964018	Ring chromosome 6 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767861000241111	syndrome du chromosome 6 en anneau (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
966621000172119	chromosome 6 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
998461000172110	syndrome du chromosome 6 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3658965017	A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (for example hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations and seizures 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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