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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Infantile Cortical Hyperostosis | |
| Synonyms |
Caffey Disease Infantile Cortical Hyperostosis |
|
| Definitions |
A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118423 |
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| ALT_DEFINITION |
An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist.
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| code |
C118423
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|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
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| Contributing_Source |
MedDRA NICHD
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|
| DEFINITION |
A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability.
|
|
| FULL_SYN |
Caffey Disease Infantile Cortical Hyperostosis
|
|
| label |
Infantile Cortical Hyperostosis
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|
| Maps_To |
Infantile cortical hyperostosis
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| NCI_META_CUI |
CL479882
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| Preferred_Name |
Infantile Cortical Hyperostosis
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|
| prefixIRI |
Thesaurus:C118423
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| Semantic_Type |
Disease or Syndrome
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| subClassOf |
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