Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/770594005
http://purl.bioontology.org/ontology/SNOMEDCT/770594005
|
|---|---|
| Preferred Name | Retinal macular dystrophy type 2 |
| Definitions |
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.
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).
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).
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).
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.
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).
|
| Synonyms |
Retinal macular dystrophy type 2 (disorder)
MCDR2 - retinal macular dystrophy type 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. 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). 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). 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). 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. 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).
See more
See less
|
|---|---|
| prefLabel | Retinal macular dystrophy type 2
|
| altLabel |
Retinal macular dystrophy type 2 (disorder)
MCDR2 - retinal macular dystrophy type 2
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20190131
|
| cui | C4749334
|
| CTV3ID | XV6nj
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 770594005
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~H18.559
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~H18.55
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS H18.559 | CONSIDER LATERALITY SPECIFICATION
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS H18.55
447562003~MAPTARGET~H35.5
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000509007~ACCEPTABILITYID~900000000000549004
900000000000497000~MAPTARGET~XV6nj
See more
See less
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |