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autosomaal recessieve cerebrale atrofie (aandoening)
autosomaal recessieve cerebrale atrofie
Autosomal recessive cerebral atrophy
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting 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.
Id776087007
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebrum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map363969
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