Summitt-syndroom (aandoening) DEPRECATED
Summitt-syndroom
syndroom van Summitt
acrocefalosyndactylie van Summitt
Summitt syndrome
Summitt's acrocephalosyndactyly
Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979.
Id733606001
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2024-09-01)
REPLACED BY association reference set403767009 | acrocefalopolysyndactylie type 2 | (2024-09-01)
SNOMED CT to Orphanet simple map3210