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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/763213001
http://purl.bioontology.org/ontology/SNOMEDCT/763213001
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|---|---|
| Preferred Name | Conductive deafness, ptosis, skeletal anomalies syndrome |
| Definitions |
A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
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| Synonyms |
Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)
Jackson Barr syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
|---|---|
| altLabel |
Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)
Jackson Barr syndrome
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| prefLabel | Conductive deafness, ptosis, skeletal anomalies syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 763213001
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| Effective time | 20180731
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| Active | 1
|
| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q87.5
6011000124106~MAPADVICE~ALWAYS Q87.5 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q10.0
6011000124106~MAPADVICE~ALWAYS H90.2
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q10.0
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H90.2
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
900000000000497000~MAPTARGET~XV1qS
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XV1qS
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| Occurs in | |
| cui | C1857340
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| Has associated morphology |
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