neuronale ceroïdlipofuscinose
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Neuronal ceroid lipofuscinosis type 14 (disorder)
Neuronal ceroid lipofuscinosis type 14
CLN14 disease
NCL14 - neuronal ceroid lipofuscinosis type 14
A rare neuronal ceroid lipofuscinosis characterized by infantile-onset (9-11 months) neurocognitive regression, microcephaly with brain atrophy, myoclonus, vision loss and premature death.
Id1396397004
StatusPrimitive
Clinical courseprogressief
Occurrencecongenitaal
Associated morphologyatrophia
Finding sitestructuur van encephalon
SNOMED CT to ICD-10 extended map
TargetE75.4
RuleTRUE
AdviceALWAYS E75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified