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progressieve cerebellaire en cerebrale atrofie (aandoening)
progressieve cerebellaire en cerebrale atrofie
Progressive cerebello-cerebral atrophy
PCCA - progressive cerebello-cerebral atrophy
A rare genetic neurological disorder with characteristics of postnatal onset of severe global developmental delay, profound intellectual disability, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter without pontine involvement.
Id1208481000
StatusPrimitive
Clinical courseprogressief
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Associated morphologyatrophia
Finding sitestructuur van cerebellum
Associated morphologyatrophia
Finding sitestructuur van cerebrum
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map247198
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified