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periventriculaire nodulaire heterotopie (aandoening)
periventriculaire nodulaire heterotopie
PVNH
Periventricular nodular heterotopia
PVNH - periventricular nodular heterotopia
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Id816068000
StatusPrimitive
SNOMED CT to Orphanet simple map2149
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