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syndroom van macrocefalie, spastische paraplegie en dysmorfie (aandoening)
syndroom van macrocefalie, spastische paraplegie en dysmorfie
Fryns-macrocefalie
Fryns macrocephaly
Macrocephaly with spastic paraplegia and dysmorphism syndrome
A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Id716108004
StatusPrimitive
Associated morphologyvergroting
Finding sitegehele hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified