acromelische frontonasale dysplasie (aandoening)
acromelische frontonasale dysplasie
acromelische frontonasale dysostose
Acromelic frontonasal dysplasia
Toriello syndrome
A rare variant of frontonasal dysplasia with characteristics of distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail) malformations, as well as intellectual disability.
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1827
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified