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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/720602007
http://purl.bioontology.org/ontology/SNOMEDCT/720602007
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Preferred Name | Camptodactyly syndrome Guadalajara type 1 |
Definitions |
A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.
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Synonyms |
Camptodactyly syndrome Guadalajara type 1 (disorder)
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. |
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altLabel | Camptodactyly syndrome Guadalajara type 1 (disorder)
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prefLabel | Camptodactyly syndrome Guadalajara type 1
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000020002
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notation | 720602007
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Effective time | 20170131
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Active | 1
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Has finding site | |
Has pathological process | |
subClassOf |
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Semantic type UMLS property | |
type | |
Subset member | 447562003~MAPRULE~TRUE
447562003~MAPTARGET~Q87.2
447562003~MAPADVICE~ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q68.1
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XUuCz
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q68.1
6011000124106~MAPRULE~TRUE
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XUuCz
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Occurs in | |
cui | C1859359
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Has associated morphology |
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