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syndroom van viscerale neuropathie, hersenanomalie, faciale dysmorfie en ontwikkelingsachterstand (aandoening)
syndroom van viscerale neuropathie, hersenanomalie, faciale dysmorfie en ontwikkelingsachterstand
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome.
Id719833004
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van cerebrum
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