| encefalopathie op kinderleeftijd door thiamine-pyrofosfokinasedeficiëntie (aandoening) | | encefalopathie op kinderleeftijd door thiamine-pyrofosfokinasedeficiëntie | | juveniele encefalopathie door deficiëntie van thiaminepyrofosfokinase
| | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | | Childhood encephalopathy due to thiamin pyrophosphokinase deficiency
| | A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35. |
| | Id | 773668008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E51.8 | | Term | Overige manifestaties van thiaminedeficiëntie |
| Target | G93.4 | | Term | Encefalopathie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 293955 |
| SNOMED CT to ICD-10 extended map | | Target | E51.8 | | Rule | TRUE | | Advice | ALWAYS E51.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G32.8 | | Rule | TRUE | | Advice | ALWAYS G32.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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