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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720427009
http://purl.bioontology.org/ontology/SNOMEDCT/720427009
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|---|---|
| Preferred Name | Acrofacial dysostosis Kennedy Teebi type |
| Definitions |
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay.
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| Synonyms |
Acrofacial dysostosis Kennedy Teebi type (disorder)
Kennedy Teebi syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. |
|---|---|
| altLabel |
Acrofacial dysostosis Kennedy Teebi type (disorder)
Kennedy Teebi syndrome
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| prefLabel | Acrofacial dysostosis Kennedy Teebi type
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000017005
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| notation | 720427009
|
| Effective time | 20170131
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| Active | 1
|
| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q75.1
900000000000497000~MAPTARGET~XUuEr
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q75.1
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPTARGET~Q75.4
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q74.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPTARGET~Q74.8
6011000124106~MAPRULE~TRUE
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 | XUuEr
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| Occurs in | |
| cui | C4304094
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |