craniofacial dysostosis

Preferred Label : craniofacial dysostosis;

MeSH definition : Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.;

MeSH synonym : craniofacial dysostoses; dysostoses, craniofacial; dysostosis, craniofacial; craniofacial dysostosis syndrome; craniofacial dysarthrosis; Craniofacial Dysostosis Syndromes; Craniofacial Dysarthroses; Dysarthroses, Craniofacial; Dysarthrosis, Craniofacial;

CISMeF synonym : craniofacial dysostosis, type 1; disease, crouzon; disease, crouzon's; dysostosis, crouzon craniofacial; syndrome, crouzon;

CISMeF acronym : CFD1;

MeSH hyponym : crouzon disease; Craniofacial Dysostosis, Type I; Crouzon Craniofacial Dysostosis; Craniofacial Dysostosis, Crouzon; Craniofacial Dysostosis Type 1; Crouzon's Disease; Crouzons Disease; Crouzon Syndrome;

CISMeF hyponym : disease, crouzon;

False MeSH synonym : crouzons disease; disease, crouzon's;

MeSH annotation : craniofacial dysmorphism does not go here: index under FACIAL BONES / abnorm SKULL / abnorm but not also ABNORMALITIES, MULTIPLE;

Wikipedia link : https://en.wikipedia.org/wiki/Crouzon syndrome;

Details

Origin ID

D003394;

UMLS CUI

C0010273;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- FGFR2 wt Allele [NCIt concept]
- Nucleotide-binding protein 2 [OMIM gene]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Craniofacial Dysostosis [NCIt concept]
- Craniofacial dysostoses [ICD-11 Subcategory]
- Craniofacial dysostosis [ICD-10 Sub-category]
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
- Craniofacial dysostosis [MedDRA Preferred Term]
- Craniofacial dysostosis [HPO term]
- Crouzon disease [PASCAL descriptor]
- Crouzon disease [ICD-11 Sub-sub category]
- 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]
- crouzon syndrome [SNOMED Notion]
DO Cross reference
- Crouzon syndrome [DO Concept]
HPO term
- Craniofacial dysostosis [HPO term]
Manual NTBT mappings (CISMeF)
- Acrocraniofacial dysostosis [ORDO Disease]
- Acrofacial dysostosis, Catania type [ORDO Disease]
- Acrofacial dysostosis, Kennedy-Teebi type [ORDO Disease]
- Acrofacial dysostosis, Palagonia type [ORDO Disease]
- Acrofacial dysostosis, Rodríguez type [ORDO Disease]
- Acrofrontofacionasal dysostosis [ORDO Disease]
- Acromelic frontonasal dysplasia [ORDO Disease]
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Craniostenosis with strabismus [ORDO Disease]
- Craniosynostosis syndrome or cranial ossification disease [ORDO Disease]
- Familial osteodysplasia, Anderson type [ORDO Disease]
- Frontofacionasal dysplasia [ORDO Disease]
- Frontonasal dysplasia [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Nager syndrome [ORDO Disease]
- Oculomaxillofacial dysostosis [ORDO Disease]
- Rare bone disease [ORDO Disease]
- Rare genetic bone disease [ORDO Disease]
- Syndromic craniosynostosis [ORDO Disease]
- X-linked mandibulofacial dysostosis [ORDO Disease]
Record concept(s)
- craniofacial dysostosis [MeSH concept]
- crouzon disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- bazopoulou kyrkanidou syndrome [MeSH Supplementary Concept]
- cote katsantoni syndrome [MeSH Supplementary Concept]
- craniofacial dysostosis with diaphyseal hyperplasia [MeSH Supplementary Concept]
- craniometaphyseal dysplasia, autosomal recessive type [MeSH Supplementary Concept]
- crouzon syndrome with acanthosis nigricans [MeSH Supplementary Concept]
- hypomandibular faciocranial dysostosis [MeSH Supplementary Concept]
- kaplan plauchu fitch syndrome [MeSH Supplementary Concept]
- maxillofacial dysostosis [MeSH Supplementary Concept]
- oculomaxillofacial dysostosis [MeSH Supplementary Concept]
- tricho-dento-osseous syndrome 1 [MeSH Supplementary Concept]
- whistling face syndrome, recessive form [MeSH Supplementary Concept]
See also
- receptor, fibroblast growth factor, type 2 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial Dysostosis [NCIt 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]
- crouzon syndrome [SNOMED Notion]

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