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)))
definition citation
orphanet
hasDbXref
MeSH:C536438, MedDRA:10049066, UMLS:C0265223, ICD-10:Q87.8, OMIM:216550
notation
ORPHA:193
Term relations
Subclass of:
- malformation syndrome
- part_of some Syndromic obesity
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Rare genetic syndromic intellectual disability
- part_of some Constitutional neutropenia with extra-hematopoietic manifestations
- has_inheritance some autosomal recessive
- part_of some Rare syndromic intellectual disability
- has_age_of_onset some infancy
- part_of some Syndromic rod-cone dystrophy
- present_in some Worldwide and has_cases/families_average_value value 200.0
- has_age_of_onset some neonatal
- part_of some Multiple congenital anomalies/dysmorphic syndrome-intellectual disability