crouzon syndrome

Preferred Label : crouzon syndrome;

Details

Origin ID

D4-00C05;

UMLS CUI

C0010273;

Automatic exact mappings (from CISMeF team)
- Type II Acrocephalopolysyndactyly [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Craniofacial Dysostosis [NCIt concept]
- Craniofacial dysostosis [ICD-10 Sub-category]
- Craniofacial dysostosis [MedDRA Preferred Term]
- Craniofacial dysostosis [HPO term]
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
- Crouzon disease [PASCAL descriptor]
- Crouzon disease [ICD-11 Sub-sub category]
- Crouzon syndrome [Disease (Nov.)]
- Crouzon syndrome [DO Concept]
- Crouzon syndrome [OMIM Phenotype]
- Crouzon syndrome [ORDO Disease]
- Crouzon syndrome (disorder) [SNOMED CT concept]
- Crouzon's disease [MedDRA LLT]
- craniofacial dysostosis [MeSH concept]
- craniofacial dysostosis [MeSH Descriptor]
- crouzon disease [MeSH concept]
Has phenotype(s) (HPO)
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
ICD-10 exact mapping(s)
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Craniostenosis with strabismus [ORDO Disease]
- Craniosynostosis syndrome or cranial ossification disease [ORDO Disease]
- Syndromic craniosynostosis [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- face, nos [SNOMED Notion]
- multiple congenital anomalies, nos [SNOMED Notion]
- skull, nos [SNOMED Notion]
SNOMED CT concept
- Crouzon syndrome (disorder) [SNOMED CT concept]
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]
- craniofacial dysostosis [MeSH Descriptor]
- craniofacial dysostosis [MeSH concept]

Keyword's position in hierarchy(ies) :

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