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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/232049001
http://purl.bioontology.org/ontology/SNOMEDCT/232049001
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|---|---|
| Preferred Name | Adult vitelliform macular dystrophy |
| Definitions |
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern.
A rare, genetic, macular dystrophy characterised by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
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| Synonyms |
Adult vitelliform macular dystrophy (disorder)
Adult-onset vitelliform macular dystrophy
Gass disease
AVMD - adult vitelliform macular dystrophy
Pseudo-Best disease
Adult-onset foveomacular dystrophy
AOFMD - adult-onset foveomacular dystrophy
Pseudo-vitelliform macular dystrophy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. A rare, genetic, macular dystrophy characterised by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. |
|---|---|
| prefLabel | Adult vitelliform macular dystrophy
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| altLabel |
Adult vitelliform macular dystrophy (disorder)
Adult-onset vitelliform macular dystrophy
Gass disease
AVMD - adult vitelliform macular dystrophy
Pseudo-Best disease
Adult-onset foveomacular dystrophy
AOFMD - adult-onset foveomacular dystrophy
Pseudo-vitelliform macular dystrophy
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| Has clinical course | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20230131
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| cui | C1842914
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| CTV3ID | X00dp
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
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| Occurs in | |
| tui | T047
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| Active | 1
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| Has associated morphology | |
| notation | 232049001
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| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~X00dp
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.54
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~H35.5
6011000124106~MAPADVICE~ALWAYS H35.54
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
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