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geïsoleerde bilaterale hemisferische cerebellaire hypoplasie (aandoening)
geïsoleerde bilaterale hemisferische cerebellaire hypoplasie
geïsoleerde bilaterale hemisferische hypoplasie van cerebellum
Isolated bilateral hemispheric cerebellar hypoplasia
A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression.
Id771234002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van hemispherium cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
SNOMED CT to Orphanet simple map269221
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified