chronische encefalopathie	chronische stoornis van metabolisme	congenitale musculaire dystrofie	gecombineerde malformatie van centraal zenuwstelsel en skeletspier	hereditaire stoornis van metabolisme van zenuwstelsel	hypoplasie van cerebellum
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congenitale hereditaire spierdystrofie met betrokkenheid van cerebellum (aandoening)
	congenitale hereditaire spierdystrofie met betrokkenheid van cerebellum
	congenitale erfelijke spierdystrofie met betrokkenheid van cerebellum
	Congenital muscular dystrophy with cerebellar involvement
	A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.

Id	783176002
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van cerebellum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van skeletspier
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Clinical course

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G71.2
Term	Congenitale myopathieën

SNOMED CT to Orphanet simple map

370959

SNOMED CT to ICD-10 extended map

Target	G71.2
Rule	TRUE
Advice	ALWAYS G71.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified