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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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
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