Muenke Syndrome

Preferred Label : Muenke Syndrome;

NCIt synonyms : FGFR3-Related Craniosynostosis;

NCIt definition : A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.;

Details

Origin ID

C84904;

UMLS CUI

C1864436;

Currated CISMeF NLP mapping
- Fibroblast growth factor receptor 3-related craniosynostosis (disorder) [SNOMED CT concept]
- Muenke Syndrome [DO Concept]
- Muenke Syndrome [MeSH concept]
- Muenke syndrome [ICD-11 More detail]
- Muenke syndrome [OMIM Phenotype]
- Muenke syndrome [ORDO Disease]
- Muenke syndrome (disorder) [SNOMED CT concept]
- muenke syndrome [MeSH Supplementary Concept]
DO Cross reference
- Muenke Syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibroblast growth factor receptor 3-related craniosynostosis (disorder) [SNOMED CT concept]
- Muenke Syndrome [MeSH concept]
- Muenke Syndrome [DO Concept]
- Muenke syndrome [ORDO Disease]
- Muenke syndrome [OMIM Phenotype]
- Muenke syndrome [MedDRA Preferred Term]
- Muenke syndrome (disorder) [SNOMED CT concept]
- muenke syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients