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syndroom van megalocornea en verstandelijke beperking (aandoening)
syndroom van megalocornea en verstandelijke beperking
MMR-syndroom
syndroom van Neuhäuser
syndroom van megalocornea en mentale retardatie
syndroom van megalocornea en verstandelijke handicap
Megalocornea with intellectual disability syndrome
MMR (megalocornea, mental retardation) syndrome
Neuhäuser syndrome
A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Id733522005
StatusPrimitive
Associated morphologyvergroting
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
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