| 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. |
| | Id | 1172698005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 480864 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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