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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.
Id783176002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map370959
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified