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26445008: Cat eye syndrome (disorder)

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
44292015 Cat eye syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (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
756878017 Cat eye syndrome (disorder) en Fully specified name Active Only initial character case insensitive (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 Only initial character 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
3413561001000110 Katzenaugensyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66391000077113 syndrome des yeux de chat fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66391000077113 syndrome des yeux de chat fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413561001000110 Katzenaugensyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cat eye syndrome (disorder) Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Is a Multisystem disorder C-D (navigational concept) false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cat eye syndrome (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Is a Partial trisomy of chromosome 22 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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