Beare-Stevenson cutis gyrata syndrome

Preferred Label : Beare-Stevenson cutis gyrata syndrome;

ICD-11 definition : Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Cutis verticis gyrate variably affects the scalp, forehead, face, pre-auricular area, neck, trunk, hands and feet. Performance and life expectancy appear to be related to the presence or absence of cloverleaf skull.;

Details

Origin ID

947865461;

UMLS CUI

C1852406;

Currated CISMeF NLP mapping
- Beare Stevenson syndrome [Disease (Nov.)]
- Beare-Stevenson Cutis Gyrata Syndrome [NCIt concept]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- 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 [NCIt concept]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- 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 concept]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]

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