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44295002: Congenital coloboma of optic disc (disorder)


Status: current, 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
73884017 Congenital coloboma of optic disc en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493844018 Congenital optic disc coloboma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
781406016 Congenital coloboma of optic disc (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4534271000241114 colobome congénital de la papille optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
643381000274119 Kongenitales Sehnervenpapillen-Kolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
643391000274117 Kongenitales Kolobom der Sehnervenpapille de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441091001000117 Papillenkolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital coloboma of optic disc Is a Congenital anomaly of optic disc true Inferred relationship Some
Congenital coloboma of optic disc Is a Coloboma of optic disc false Inferred relationship Some
Congenital coloboma of optic disc Finding site Optic disc structure true Inferred relationship Some 1
Congenital coloboma of optic disc Occurrence Congenital false Inferred relationship Some
Congenital coloboma of optic disc Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital coloboma of optic disc Associated morphology Congenital failure of fusion false Inferred relationship Some 1
Congenital coloboma of optic disc Finding site Structure of central nervous system (body structure) false Inferred relationship Some 3
Congenital coloboma of optic disc Is a Congenital malformation false Inferred relationship Some
Congenital coloboma of optic disc Is a Congenital ocular coloboma (disorder) false Inferred relationship Some
Congenital coloboma of optic disc Associated morphology Defect false Inferred relationship Some 2
Congenital coloboma of optic disc Finding site Eye structure false Inferred relationship Some 2
Congenital coloboma of optic disc Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital coloboma of optic disc Associated morphology Congenital failure of fusion false Inferred relationship Some 1
Congenital coloboma of optic disc Finding site Optic disc structure false Inferred relationship Some 1
Congenital coloboma of optic disc Associated morphology Defect false Inferred relationship Some 2
Congenital coloboma of optic disc Finding site Eye structure false Inferred relationship Some 2
Congenital coloboma of optic disc Occurrence Congenital false Inferred relationship Some 3
Congenital coloboma of optic disc Occurrence Congenital false Inferred relationship Some 4
Congenital coloboma of optic disc Associated morphology anomalie du développement false Inferred relationship Some 4
Congenital coloboma of optic disc Associated morphology Congenital failure of fusion false Inferred relationship Some 3
Congenital coloboma of optic disc Finding site Eye structure false Inferred relationship Some 3
Congenital coloboma of optic disc Finding site Optic disc structure false Inferred relationship Some 4
Congenital coloboma of optic disc Finding site Eye structure false Inferred relationship Some 5
Congenital coloboma of optic disc Occurrence Congenital false Inferred relationship Some 5
Congenital coloboma of optic disc Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Congenital coloboma of optic disc Finding site Optic disc structure false Inferred relationship Some 2
Congenital coloboma of optic disc Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Congenital coloboma of optic disc Is a difetto retinico false Inferred relationship Some
Congenital coloboma of optic disc Is a Neurological lesion true Inferred relationship Some
Congenital coloboma of optic disc Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Congenital coloboma of optic disc Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
Congenital coloboma of optic disc Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital coloboma of optic disc Is a Fundus coloboma true Inferred relationship Some
Congenital coloboma of optic disc Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital coloboma of left optic disc Is a True Congenital coloboma of optic disc Inferred relationship Some
Congenital coloboma of right optic disc (disorder) Is a True Congenital coloboma of optic disc Inferred relationship Some
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Is a True Congenital coloboma of optic disc Inferred relationship Some

This concept is not in any reference sets

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