Infantile Cortical Hyperostosis

Preferred Label : Infantile Cortical Hyperostosis;

NCIt related terms : Caffey Disease;

NCIt definition : A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability.;

Alternative definition : NICHD: 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.;

NCI Metathesaurus CUI : CL479882;

Details

Origin ID

C118423;

UMLS CUI

C0020497;

Currated CISMeF NLP mapping
- Caffey disease [DO Concept]
- Caffey disease [Radlex concept]
- Caffey disease [OMIM Phenotype]
- Caffey disease [ORDO Disease]
- Caffey's disease [MedDRA LLT]
- Infantile cortical hyperostosis [PASCAL descriptor]
- Infantile cortical hyperostosis [MedDRA Preferred Term]
- Infantile cortical hyperostosis [ICD-11 More detail]
- Infantile cortical hyperostosis (disorder) [SNOMED CT concept]
- congenital cortical hyperostosis [Disease (Nov.)]
- hyperostosis, cortical, congenital [MeSH Descriptor]
- hyperostosis, cortical, congenital [MeSH concept]
- infantile cortical hyperostosis [SNOMED Notion]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Caffey disease [ORDO Disease]
- Caffey disease [Radlex concept]
- Caffey disease [DO Concept]
- Caffey disease [OMIM Phenotype]
- Caffey's disease [MedDRA LLT]
- Infantile cortical hyperostosis [MedDRA Preferred Term]
- Infantile cortical hyperostosis [ICD-11 More detail]
- Infantile cortical hyperostosis [PASCAL descriptor]
- Infantile cortical hyperostosis (disorder) [SNOMED CT concept]
- congenital cortical hyperostosis [Disease (Nov.)]
- hyperostosis, cortical, congenital [MeSH Descriptor]
- hyperostosis, cortical, congenital [MeSH concept]
- infantile cortical hyperostosis [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- COL1A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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