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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1172632008
http://purl.bioontology.org/ontology/SNOMEDCT/1172632008
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|---|---|
| Preferred Name | SIX2-related frontonasal dysplasia |
| Definitions |
A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described.
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| Synonyms |
SIX homeobox 2-related frontonasal dysplasia
SIX homeobox 2-related frontonasal dysplasia (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described. |
|---|---|
| altLabel |
SIX homeobox 2-related frontonasal dysplasia
SIX homeobox 2-related frontonasal dysplasia (disorder)
|
| prefLabel | SIX2-related frontonasal dysplasia
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000017005
|
| notation | 1172632008
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| Effective time | 20210930
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q75.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q75.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVGnA
447562003~MAPTARGET~Q87.0
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVGnA
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| Occurs in | |
| cui | C5567484
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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 |
Showing 1 to 3 of 3 entries
