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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
2608391000005110 Kongenit coloboma i synsnervepapil da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


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 i synsnervepapil 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 dysgenese false Inferred relationship Some 2
Congenital coloboma of optic disc Associated morphology kongenit manglende sammenvoksning 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 Defekt 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 kongenit anomali false Inferred relationship Some 3
Congenital coloboma of optic disc Associated morphology kongenit manglende sammenvoksning 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 Defekt 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 dysgenese false Inferred relationship Some 4
Congenital coloboma of optic disc Associated morphology kongenit manglende sammenvoksning 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 Retinadefekt 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 Kongenitte anomalier og udviklingsanomalier i nervesystemet 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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