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1231183003: Familial isolated retinal arterial tortuosity (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400191015 A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400192010 A rare genetic cerebral small vessel disease characterised by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal haemorrhage following physical exertion or minor trauma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5071804017 Familial isolated retinal arterial tortuosity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071805016 Familial isolated retinal arterial tortuosity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071806015 Retinal hemorrhage with vascular tortuosity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071807012 Tortuosity of retinal arteries en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071808019 Retinal haemorrhage with vascular tortuosity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071809010 Retinal arteriolar tortuosity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
562041000274117 Familäre isolierte Tortuositas der retinalen Arterien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
593491000274113 Netzhautblutungen mit vaskulärer Tortuositas de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382851001000111 Tortuositas der retinalen Arterien 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 genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Retinal arterial tortuosity true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Tortuosity of systemic artery (disorder) true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Disease of non-coronary systemic artery true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Retinal vascular disorder true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Deformity of eyeball true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a Genetic disease true Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Finding site Structure of retinal artery true Inferred relationship Some 1
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Associated morphology Tortuosity true Inferred relationship Some 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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