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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/80328002
http://purl.bioontology.org/ontology/SNOMEDCT/80328002
|
|---|---|
| Preferred Name | Progressive cone-rod dystrophy |
| Definitions |
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field.
A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal colour vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
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| Synonyms |
Cone-rod retinal dystrophy
Progressive cone-rod dystrophy (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field. A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal colour vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. |
|---|---|
| altLabel |
Cone-rod retinal dystrophy
Progressive cone-rod dystrophy (disorder)
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| prefLabel | Progressive cone-rod dystrophy
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 80328002
|
| Effective time | 20210930
|
| Active | 1
|
| Has finding site | |
| Has clinical course | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000497000~MAPTARGET~X00dw
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPADVICE~IF SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY SYNDROME CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.54
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
6011000124106~MAPRULE~IFA 719205008 | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
6011000124106~MAPRULE~IFA 719205008 | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) |
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPADVICE~IF SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY SYNDROME CHOOSE H35.54 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPCATEGORYID~447639009
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
6011000124106~MAPPRIORITY~2
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | X00dw
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| cui | C0339530
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| Has associated morphology |
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