syndroom van spinale spieratrofie, Dandy-Walker-malformatie en cataract (aandoening) | | syndroom van spinale spieratrofie, Dandy-Walker-malformatie en cataract | | Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome | | A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. |
| Id | 723612001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G12.8 | Term | Overige gespecificeerde vormen van spinale spieratrofie en verwante syndromen |
Target | Q03.1 | Term | Atresie van foramina van Magendie en Luschka |
Target | Q12.0 | Term | Congenitaal cataract |
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SNOMED CT to Orphanet simple map | 73245 |
SNOMED CT to ICD-10 extended map | Target | G12.8 | Rule | TRUE | Advice | ALWAYS G12.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q03.1 | Rule | TRUE | Advice | ALWAYS Q03.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q12.0 | Rule | TRUE | Advice | ALWAYS Q12.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
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