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congenitaal intra-uterien infectieachtig syndroom (aandoening)
congenitaal intra-uterien infectieachtig syndroom
syndroom van Baraitser-Brett-Piesowicz
syndroom van Baraitser-Reardon
BLC-PMG
syndroom van microcefalie, intracraniële calcificatie en verstandelijke beperking
pseudo-TORCH-syndroom
bilaterale bandachtige calcificatie met polymicrogyrie
Congenital intrauterine infection-like syndrome
Baraitser Brett Piesowicz syndrome
Pseudo-TORCH syndrome
Microcephaly, intracranial calcification, intellectual disability syndrome
Bilateral band-like calcification with polymicrogyria
Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, cerebellar hypoplasia or atrophy and congenital cataract. The cause remains unknown. Several familial cases, compatible with an autosomal recessive pattern of inheritance have been described.
Id722390006
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
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