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1230020008: Congenital peripapillary staphyloma (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400110015 A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400111016 A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066434018 Congenital peripapillary staphyloma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066435017 Congenital peripapillary staphyloma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7760641000241110 staphylome péripapillaire congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
524231000274119 Kongenitales peripapilläres Staphylom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393931001000118 Peripapilläres Staphylom 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
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Is a Congenital anomaly of optic disc true Inferred relationship Some
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Occurrence Congenital true Inferred relationship Some 1
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Finding site Optic disc structure true Inferred relationship Some 1
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Is a Congenital chorioretinal degeneration true Inferred relationship Some
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Is a Chorioretinal atrophy true Inferred relationship Some
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Occurrence Congenital true Inferred relationship Some 2
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Finding site Choroidal structure true Inferred relationship Some 2
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Associated morphology Atrophy true Inferred relationship Some 2
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Occurrence Congenital true Inferred relationship Some 3
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Finding site Retinal structure true Inferred relationship Some 3
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Associated morphology Atrophy true Inferred relationship Some 3
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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