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GM3-synthasedeficiƫntie (aandoening)
GM3-synthasedeficiƫntie
symptomatisch epilepsiesyndroom beginnend op zuigelingenleeftijd
Amish infantiel epilepsiesyndroom
GM3 synthase deficiency
Amish infantile epilepsy syndrome
Infantile-onset symptomatic epilepsy syndrome
Ganglioside GM3 synthase deficiency
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.
Id722762005
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map370933
SNOMED CT to ICD-10 extended map
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified