autosomaal recessieve cerebrale atrofie (aandoening)
autosomaal recessieve cerebrale atrofie
Autosomal recessive cerebral atrophy
A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.
Associated morphologyatrophia
Finding sitestructuur van cerebrum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map363969
SNOMED CT to ICD-10 extended map
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified