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syndroom van recidiverende metabole encefalomyopathische crises, rabdomyolyse, hartritmestoornis en verstandelijke beperking (aandoening)
syndroom van recidiverende metabole encefalomyopathische crises, rabdomyolyse, hartritmestoornis en verstandelijke beperking
TANGO2-gerelateerd syndroom van metabole encefalopathie en cardiale aritmie
syndroom van recidiverende metabole encefalomyopathische crises, rabdomyolyse, cardiale aritmie en verstandelijke handicap
syndroom van recidiverende metabole encefalomyopathische crises, rabdomyolyse, hartritmestoornis en mentale retardatie
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
TANGO2-related metabolic encephalopathy, arrhythmia syndrome
A rare genetic neurodegenerative disease with characteristics of episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Id1172698005
StatusPrimitive
Clinical courserecidiverend
Associated morphologyrabdomyolyse
Finding sitestructuur van skeletspier
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map480864
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified