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X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke beperking, basalegangliaziekte en epileptische aanvallen (aandoening)
X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke beperking, basalegangliaziekte en epileptische aanvallen
X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke handicap, basalegangliaziekte en insulten
X-gebonden syndroom van Dandy-Walker-malformatie, mentale retardatie, basalegangliaziekte en convulsies
Pettigrew syndrome
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.
Id719139003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ03.1
TermAtresie van foramina van Magendie en Luschka
SNOMED CT to Orphanet simple map1568
SNOMED CT to ICD-10 extended map
TargetQ03.1
RuleTRUE
AdviceALWAYS Q03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified