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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/723499000
http://purl.bioontology.org/ontology/SNOMEDCT/723499000
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|---|---|
| Preferred Name | Ring dermoid of cornea |
| Definitions |
Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
Ring dermoid of cornea has characteristics of annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene on chromosome 4q25 have been suggested as a potential cause of the condition.
Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
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| Synonyms |
Ring dermoid syndrome
Ring dermoid of cornea (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. Ring dermoid of cornea has characteristics of annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene on chromosome 4q25 have been suggested as a potential cause of the condition. Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. |
|---|---|
| altLabel |
Ring dermoid syndrome
Ring dermoid of cornea (disorder)
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| prefLabel | Ring dermoid of cornea
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 723499000
|
| Effective time | 20170731
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| Active | 1
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| Has finding site | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~H18.899
6011000124106~MAPADVICE~ALWAYS H18.899 | CONSIDER LATERALITY SPECIFICATION
6011000124106~MAPGROUP~1
447562003~MAPTARGET~D31.1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUvCz
447562003~MAPADVICE~ALWAYS D31.1 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUvCz
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| cui | C1867155
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| Has associated morphology |
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| No notes to display |