Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/770667002
http://purl.bioontology.org/ontology/SNOMEDCT/770667002
|
|---|---|
| Preferred Name | Occult macular dystrophy |
| Definitions |
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterised by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23.
|
| Synonyms |
Occult macular dystrophy (disorder)
OMD - occult macular dystrophy
OCMD - occult macular dystrophy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterised by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23. |
|---|---|
| prefLabel | Occult macular dystrophy
|
| altLabel |
Occult macular dystrophy (disorder)
OMD - occult macular dystrophy
OCMD - occult macular dystrophy
|
| Has clinical course | |
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20190131
|
| cui | C3150833
|
| CTV3ID | XV6p3
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 770667002
|
| type | |
| subClassOf | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
447562003~MAPADVICE~ALWAYS H35.5
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
900000000000497000~MAPTARGET~XV6p3
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.50
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS H35.50
447562003~MAPTARGET~H35.5
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
See more
See less
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |