Craniofacial Dysostosis

Preferred Label : Craniofacial Dysostosis;

NCIt related terms : Crouzon Syndrome;

NCIt definition : A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.;

Details

Origin ID

C84653;

UMLS CUI

C0010273;

Automatic exact mappings (from CISMeF team)
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Craniofacial dysostoses [ICD-11 Subcategory]
- Craniofacial dysostosis [ICD-10 Sub-category]
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
- Craniofacial dysostosis [HPO term]
- Craniofacial dysostosis [MedDRA Preferred Term]
- Crouzon syndrome [Disease (Nov.)]
- Crouzon syndrome [DO Concept]
- Crouzon syndrome [ORDO Disease]
- Crouzon syndrome [OMIM Phenotype]
- Crouzon syndrome (disorder) [SNOMED CT concept]
- Crouzon's disease [MedDRA LLT]
- Dysostosis with predominant craniofacial involvement [ORDO Disease]
- craniofacial dysostosis [MeSH Descriptor]
- craniofacial dysostosis [MeSH concept]
- crouzon disease [MeSH concept]
- crouzon syndrome [SNOMED Notion]
DO Cross reference
- Crouzon syndrome [DO Concept]
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)
- Craniofacial dysostoses [ICD-11 Subcategory]
- Craniofacial dysostosis [ICD-10 Sub-category]
- Craniofacial dysostosis [HPO term]
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
- Craniofacial dysostosis [MedDRA Preferred Term]
- Crouzon syndrome [ORDO Disease]
- Crouzon syndrome [DO Concept]
- Crouzon syndrome (disorder) [SNOMED CT concept]
- Crouzon's disease [MedDRA LLT]
- Dysostosis with predominant craniofacial involvement [ORDO Disease]
- craniofacial dysostosis [MeSH Descriptor]
- craniofacial dysostosis [MeSH concept]
- crouzon syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [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
- FGFR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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