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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
Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.
Id723612001
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van voorste lenspool
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetG12.8
RuleTRUE
AdviceALWAYS G12.8
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