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. |
| Id | 771238004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G12.2 | Term | Ziekte van motorische neuronen |
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SNOMED CT to Orphanet simple map | 1217 |
SNOMED CT to ICD-10 extended map | Target | G12.2 | Rule | TRUE | Advice | ALWAYS G12.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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