Caffey disease

Preferred Label : Caffey disease;

Symbol : CAFYD;

CISMeF acronym : CAFYD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile cortical hyperostosis;

Inheritance : Autosomal dominant;

Prefixed ID : #114000;

Details

Origin ID

114000;

UMLS CUI

C0020497;

Currated CISMeF NLP mapping
- Caffey disease [DO Concept]
- Caffey disease [Radlex concept]
- Caffey disease [ORDO Disease]
- Caffey's disease [MedDRA LLT]
- Congenital Cortical Hyperostosis [NCIt concept]
- Infantile Cortical Hyperostosis [NCIt concept]
- Infantile cortical hyperostosis [ICD-11 More detail]
- Infantile cortical hyperostosis [PASCAL descriptor]
- Infantile cortical hyperostosis [MedDRA Preferred Term]
- 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]
DO Cross reference
- Caffey disease [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the legs [HPO term]
- Calvarial hyperostosis [HPO term]
- Cortical irregularity [HPO term]
- Fever [HPO term]
- Periosteal thickening of long tubular bones [HPO term]
- Tibial bowing [HPO term]
ORDO concept(s)
- Caffey disease [ORDO Disease]
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's disease [MedDRA LLT]
- Congenital Cortical Hyperostosis [NCIt concept]
- Infantile Cortical Hyperostosis [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients