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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
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
4611847016 A rare, genetic macular dystrophy disorder characterized by slowly progressive bull's 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. Caused by mutation in the prominin-1 gene (PROM1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4611848014 A rare, genetic macular dystrophy disorder characterised by slowly progressive bull's 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. Caused by mutation in the prominin-1 gene (PROM1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4218001000052115 retinal makulär dystrofi, typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal macular dystrophy type 2 Is a Hereditary macular dystrophy true Inferred relationship Some
Retinal macular dystrophy type 2 Associated morphology Dystrophy true Inferred relationship Some 1
Retinal macular dystrophy type 2 Finding site Macula lutea structure true Inferred relationship Some 1
Retinal macular dystrophy type 2 Is a Autosomal dominant hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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