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770594005: Retinal macular dystrophy type 2 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5404824013 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404825014 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterised by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701485013 Retinal macular dystrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701486014 MCDR2 - retinal macular dystrophy type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701487017 Retinal macular dystrophy type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
892141000172111 dystrophie maculaire rétinienne type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948991000172118 MCDR2 - retinal macular dystrophy type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
544081000274113 MCDR2 - Retinale Makuladystrophie Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
574581000274119 Retinale Makuladystrophie Typ 2 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
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Is a Hereditary macular dystrophy true Inferred relationship Some
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Associated morphology Dystrophy true Inferred relationship Some 1
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Finding site Macula lutea structure true Inferred relationship Some 1
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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