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X-gebonden distale spinale spieratrofie type 3 (aandoening)
X-gebonden distale spinale spieratrofie type 3
SMAX3
ATP7A-gerelateerde distale motorische neuropathie
X-gebonden distale hereditaire motorische neuropathie type 3
X-gebonden distale spinale musculaire atrofie type 3
X-gebonden distale erfelijke motorische neuropathie type 3
X-linked distal spinal muscular atrophy type 3
ATP7A (ATPase copper transporting alpha) related distal motor neuropathy
X-linked distal hereditary motor neuropathy type 3
A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
Id766764008
StatusPrimitive
Clinical courseprogressief
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 map139557
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