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'nudE neurodevelopment protein 1'-gerelateerde microhydranencefalie (aandoening)
NDE1-gerelateerde microhydranencefalie
'nudE neurodevelopment protein 1'-gerelateerde microhydranencefalie
NDE1-related microhydranencephaly
MHAC - microhydranencephaly
nudE neurodevelopment protein 1-related microhydranencephaly
A rare hereditary syndrome with characteristics of extreme microcephaly and growth restriction, severe motor delay, intellectual disability and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum and brainstem. Associated features are thin bones and scalp rugae.
Id1237462006
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van hemispherium cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map443162
SNOMED CT to ICD-10 extended map
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