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15986111000119101: Congenital coloboma of bilateral optic discs (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3947221013 Congenital coloboma of bilateral optic discs (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3947222018 Congenital coloboma of bilateral optic discs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3951042019 Bilateral congenital coloboma of optic discs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3951043012 Congenital coloboma of both optic discs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5858421000241112 colobome congénital des deux points aveugles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5858431000241114 colobome congénital bilatéral des disques optiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5858441000241116 colobome congénital des deux papilles optiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
512681000274116 Bilaterales kongenitales Kolobom der Sehnervenpapillen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
550621000274114 Kongenitales Kolobom beider Sehnervenpapillen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital coloboma of bilateral optic discs (disorder) Is a Congenital chorioretinal coloboma of bilateral eyes (disorder) false Inferred relationship Some
Congenital coloboma of bilateral optic discs (disorder) Is a Congenital anomaly of bilateral optic discs (disorder) true Inferred relationship Some
Congenital coloboma of bilateral optic discs (disorder) Is a Congenital coloboma of left optic disc true Inferred relationship Some
Congenital coloboma of bilateral optic discs (disorder) Is a Defect of retina of bilateral eyes false Inferred relationship Some
Congenital coloboma of bilateral optic discs (disorder) Is a Congenital coloboma of right optic disc (disorder) true Inferred relationship Some
Congenital coloboma of bilateral optic discs (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Finding site Structure of left optic disc (body structure) true Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Finding site Structure of right optic disc (body structure) true Inferred relationship Some 2
Congenital coloboma of bilateral optic discs (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Congenital coloboma of bilateral optic discs (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital coloboma of bilateral optic discs (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital coloboma of bilateral optic discs (disorder) Is a Lesion of retina of bilateral eyes (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. Is a True Congenital coloboma of bilateral optic discs (disorder) Inferred relationship Some

This concept is not in any reference sets

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