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syndroom van encefalopathie, intracerebrale calcificatie en retinadegeneratie (aandoening)
syndroom van encefalopathie, intracerebrale calcificatie en retinadegeneratie
syndroom van Bonnemann-Meinecke-Reich
Encephalopathy, intracerebral calcification, retinal degeneration syndrome
Bonnemann Meinecke Reich syndrome
A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
Id733049004
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified