cutis gyrata syndrome of beare and stevenson

Preferred Label : cutis gyrata syndrome of beare and stevenson;

MeSH note : mutation in FGFR2;

CISMeF synonym : Beare Stevenson;

MeSH synonym : Beare-Stevenson cutis gyrata syndrome; cutis gyrata syndrome of Beare-Stevenson;

Détails

Origin ID

C565129;

UMLS CUI

C1852406;

CISMeF manual mappings
- Beare Stevenson syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- Beare-Stevenson Cutis Gyrata Syndrome [NCIt concept]
- 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]
MeSH term(s) associated for indexing
- acanthosis nigricans [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- ear [MeSH Descriptor]
- scalp dermatoses [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- 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 [NCIt concept]
- 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]

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