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neurofaciodigitorenaal syndroom (aandoening)
neurofaciodigitorenaal syndroom
syndroom van Freire-Maia-Pinheiro-Opitz
Neurofaciodigitorenal syndrome
Freire Maia Pinheiro Opitz syndrome
NFDR (neurofaciodigitorenal) syndrome
A multiple developmental anomalies syndrome with characteristics of neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
Id725908007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van nier
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