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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.
Id723612001
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG12.8
TermOverige gespecificeerde vormen van spinale spieratrofie en verwante syndromen
TargetQ03.1
TermAtresie van foramina van Magendie en Luschka
TargetQ12.0
TermCongenitaal cataract
SNOMED CT to Orphanet simple map73245
SNOMED CT to ICD-10 extended map
TargetG12.8
RuleTRUE
AdviceALWAYS G12.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ03.1
RuleTRUE
AdviceALWAYS Q03.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified