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Cohen syndrome

^ http://www.orpha.net/ORDO/Orphanet_193


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Term info

database cross reference
  • MeSH:C536438 (E (exact mapping (the terms and the concepts are equivalent)))
  • MedDRA:10049066 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (NTBT (narrower term maps to a broader term))
  • ICD-10:Q87.8 (Attributed)
  • UMLS:C0265223 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:216550 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:C536438, MedDRA:10049066, UMLS:C0265223, ICD-10:Q87.8, OMIM:216550

notation

ORPHA:193