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ernstige verstandelijke beperking en progressieve spastische paraplegie (aandoening)
ernstige verstandelijke beperking en progressieve spastische paraplegie
AP4-deficiƫntiesyndroom
ernstige mentale retardatie en progressieve spastische paraplegie
ernstige verstandelijke handicap en progressieve spastische paraplegie
Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter.
Id778011005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetF72.9
RuleTRUE
AdviceALWAYS F72.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified