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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/722105002
http://purl.bioontology.org/ontology/SNOMEDCT/722105002
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|---|---|
| Preferred Name | Oro-facial digital syndrome type 5 |
| Definitions |
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Syndrome with characteristics of median cleft of upper lip, postaxial polydactyly of hands and feet and oral manifestations (duplicated frenulum). Less than 20 patients (predominantly of Indian origin) have been reported so far. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
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| Synonyms |
Orofaciodigital syndrome type 5
Orofaciodigital syndrome Thurston type
Thurston syndrome
Oro-facial digital syndrome type 5 (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Syndrome with characteristics of median cleft of upper lip, postaxial polydactyly of hands and feet and oral manifestations (duplicated frenulum). Less than 20 patients (predominantly of Indian origin) have been reported so far. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). |
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| altLabel |
Orofaciodigital syndrome type 5
Orofaciodigital syndrome Thurston type
Thurston syndrome
Oro-facial digital syndrome type 5 (disorder)
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| prefLabel | Oro-facial digital syndrome type 5
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
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| notation | 722105002
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| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q38.6
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q87.0
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q74.9
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q38.6
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q74.9
900000000000497000~MAPTARGET~XUusr
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
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 | XUusr
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| Occurs in | |
| cui | C1868118
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |