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familiaire infantiele bilaterale striatale necrose (aandoening)
familiaire infantiele bilaterale striatale necrose
familiale infantiele striatonigrale degeneratie
Familial infantile bilateral striatal necrosis
Familial IBSN (infantile bilateral striatal necrosis)
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Id1208478005
StatusPrimitive
Has interpretationlangzaam
InterpretsMovement
Clinical courseprogressief
SNOMED CT to Orphanet simple map225154
SNOMED CT to ICD-10 extended map
TargetG23.2
RuleTRUE
AdviceALWAYS G23.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified