||||||||||||||
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 characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
Id237984008
StatusPrimitive
Occurrencecongenitaal
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van retina
InterpretsMovement
SNOMED CT to Orphanet simple map644
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified