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syndroom van epilepsie, microcefalie en skeletdysplasie (aandoening)
syndroom van epilepsie, microcefalie en skeletdysplasie
syndroom van Battaglia-Neri
Epilepsy, microcephaly, skeletal dysplasia syndrome
Battaglia Neri syndrome
Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.
Id733031004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified