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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/733067006
http://purl.bioontology.org/ontology/SNOMEDCT/733067006
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|---|---|
| Preferred Name | Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
| Definitions |
Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia.
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.
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| Synonyms |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia. Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
|---|---|
| prefLabel | Telecanthus, hypertelorism, strabismus, pes cavus syndrome
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| altLabel | Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)
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| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20170731
|
| cui | C2931549
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| Has pathological process | |
| CTV3ID | XUxdu
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 733067006
|
| type | |
| subClassOf |
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| Subset member | 6011000124106~MAPADVICE~ALWAYS Q66.7
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~H50.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
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6011000124106~MAPADVICE~ALWAYS Q10.3
447562003~MAPADVICE~ALWAYS Q75.2
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q66.70
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q10.3
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~H50.8
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q75.2
6011000124106~MAPTARGET~Q66.7
6011000124106~MAPADVICE~ALWAYS Q75.2
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPGROUP~4
447562003~MAPADVICE~ALWAYS Q10.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~4
6011000124106~MAPADVICE~ALWAYS H50.9
6011000124106~MAPADVICE~ALWAYS Q66.70 | CONSIDER LATERALITY SPECIFICATION
447562003~MAPTARGET~Q10.3
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPTARGET~Q75.2
447562003~MAPTARGET~Q66.7
6011000124106~MAPPRIORITY~1
900000000000497000~MAPTARGET~XUxdu
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q66.7
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPGROUP~3
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