26445008: Cat eye syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 22\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \Congenital disease\Congenital malformation\Cat eye syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 22\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
• \trouble du développement\Congenital malformation\Cat eye syndrome

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
1225043010	CES - Cat eye syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
44292015	Cat eye syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44293013	Schachenmann's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
66391000077113	syndrome des yeux de chat	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
688551000077116	syndrome des yeux de chat (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
756878017	Cat eye syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555264017	A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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