26445008: Cat eye syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Cat eye syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\Cat eye syndrome

\Developmental disorder\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

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

756878017 Cat eye syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1225043010 CES - Cat eye syndrome en Synonym (core metadata concept) Active Entire term case sensitive (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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cat eye syndrome	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
Cat eye syndrome	Is a	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Cat eye syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Cat eye syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Cat eye syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Cat eye syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Cat eye syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Cat eye syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Cat eye syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Cat eye syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Cat eye syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Cat eye syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cat eye syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Cat eye syndrome	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
Cat eye syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cat eye syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
Cat eye syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Cat eye syndrome	Is a	Partial trisomy of chromosome 22	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
756878017	Cat eye syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1225043010	CES - Cat eye syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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