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hereditaire distale motorische neuropathie type 7 (aandoening)
hereditaire distale motorische neuropathie type 7
distale spinale spieratrofie met stembandverlamming
Distal hereditary motor neuropathy type 7
Distal spinal muscular atrophy with vocal cord paralysis
A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness.
Id771081007
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG12.2
TermZiekte van motorische neuronen
SNOMED CT to Orphanet simple map139589
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified