Chronic brain syndrome	Chronic metabolic disorder	Combined malformation of central nervous system and skeletal muscle	Congenital cerebellar hypoplasia	Congenital hereditary muscular dystrophy	Inherited metabolic disorder of nervous system
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Congenital muscular dystrophy with cerebellar involvement (disorder)
	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.
	congenitale hereditaire spierdystrofie met betrokkenheid van cerebellum
	congenitale erfelijke spierdystrofie met betrokkenheid van cerebellum

Id	783176002
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Cerebellar structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dystrophy
Finding site	Skeletal muscle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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