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syndroom van spinale spieratrofie, oftalmoplegie en piramidale symptomen (aandoening)
syndroom van spinale spieratrofie, oftalmoplegie en piramidale symptomen
Spinal atrophy, ophthalmoplegia, pyramidal syndrome
Hamano Tsukamoto syndrome
A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
Id771238004
StatusPrimitive
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
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 map1217
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified