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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/733046006
http://purl.bioontology.org/ontology/SNOMEDCT/733046006
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|---|---|
| Preferred Name | Hemifacial hyperplasia strabismus syndrome |
| Definitions |
A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
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| Synonyms |
Bencze syndrome
Hemifacial hyperplasia strabismus syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. |
|---|---|
| altLabel |
Bencze syndrome
Hemifacial hyperplasia strabismus syndrome (disorder)
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| prefLabel | Hemifacial hyperplasia strabismus syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 733046006
|
| Effective time | 20170731
|
| 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~H50.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS H50.9
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q67.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS Q18.8
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q67.4
900000000000497000~MAPTARGET~XUxcS
6011000124106~MAPTARGET~Q18.8
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUxcS
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| Occurs in | |
| cui | C1841640
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| Has associated morphology |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| Subject | Author | Type | Class | Created |
|---|---|---|---|---|
| ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
| Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
| SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
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