| neurogene spierzwakte, ataxie en retinitis pigmentosa (aandoening) | | neurogene spierzwakte, ataxie en retinitis pigmentosa | | NARP syndrome | | Neurogenic muscle weakness, ataxia and retinitis pigmentosa
NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome
| | A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load. |
| | Id | 237984008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 644 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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