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syndroom van microcefalie, doofheid en verstandelijke beperking (aandoening)
syndroom van microcefalie, doofheid en verstandelijke beperking
syndroom van Kawashima-Tsuji
syndroom van microcefalie, doofheid en verstandelijke handicap
syndroom van microcefalie, doofheid en mentale retardatie
Kawashima Tsuji syndrome
Microcephaly with deafness and intellectual disability syndrome
This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Id716112005
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified