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1197365006: Familial cavitary optic disc anomaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4696045016 Familial cavitary optic disc anomaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696046015 Familial CODA (cavitary optic disc anomaly) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4696047012 Familial cavitary optic disc anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399732010 A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399733017 A rare genetic eye disease characterised by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696045016 Familial cavitary optic disc anomaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696046015 Familial CODA (cavitary optic disc anomaly) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4696047012 Familial cavitary optic disc anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696048019 A rare genetic eye disease with characteristics of congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399732010 A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399733017 A rare genetic eye disease characterised by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
592501000274112 Familiäre CODA de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445281001000110 Familiäre kavitäre Papillenanomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
592501000274112 Familiäre CODA de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445281001000110 Familiäre kavitäre Papillenanomalie 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
Familial cavitary optic disc anomaly (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a Cupping of optic disc true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a Inherited optic neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a Congenital anomaly of optic disc true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Interprets Optic disc cup (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial cavitary optic disc anomaly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial cavitary optic disc anomaly (disorder) Finding site Optic disc structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial cavitary optic disc anomaly (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial cavitary optic disc anomaly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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