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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720749004
http://purl.bioontology.org/ontology/SNOMEDCT/720749004
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|---|---|
| Preferred Name | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome |
| Definitions |
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.
A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.
A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.
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| Synonyms |
Harboyan syndrome
Corneal dystrophy with progressive deafness
Corneal dystrophy and perceptive deafness syndrome
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. |
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| altLabel |
Harboyan syndrome
Corneal dystrophy with progressive deafness
Corneal dystrophy and perceptive deafness syndrome
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
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| prefLabel | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 720749004
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| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS H18.519 | CONSIDER LATERALITY SPECIFICATION
447562003~MAPADVICE~ALWAYS H18.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
900000000000497000~MAPTARGET~XUuH1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS H90.5
6011000124106~MAPADVICE~ALWAYS H18.51
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~H90.5
6011000124106~MAPTARGET~H18.51
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~H18.519
6011000124106~MAPTARGET~H90.5
447562003~MAPTARGET~H18.5
6011000124106~MAPADVICE~ALWAYS H90.5
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuH1
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| Occurs in | |
| cui | C1857572
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| Has associated morphology |
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