Beare-Stevenson Cutis Gyrata Syndrome

Preferred Label : Beare-Stevenson Cutis Gyrata Syndrome;

NCIt definition : A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles.;

Details

Origin ID

C123813;

UMLS CUI

C1852406;

Currated CISMeF NLP mapping
- Beare Stevenson syndrome [Disease (Nov.)]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- Beare-Stevenson cutis gyrata syndrome [ICD-11 More detail]
- Beare-stevenson cutis gyrata syndrome [OMIM Phenotype]
- Cutis gyrata syndrome of Beare and Stevenson (disorder) [SNOMED CT concept]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
- cutis gyrata syndrome of beare and stevenson [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beare Stevenson syndrome [Disease (Nov.)]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- Beare-Stevenson cutis gyrata syndrome [ICD-11 More detail]
- Beare-stevenson cutis gyrata syndrome [OMIM Phenotype]
- Cutis gyrata syndrome of Beare and Stevenson (disorder) [SNOMED CT concept]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
- cutis gyrata syndrome of beare and stevenson [MeSH 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
- FGFR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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