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syndroom van spastische paraplegie, verstandelijke beperking en palmoplantaire keratodermie (aandoening)
syndroom van spastische paraplegie, verstandelijke beperking en palmoplantaire keratodermie
syndroom van spastische paraplegie, mentale retardatie en palmoplantaire keratodermie
syndroom van Fitzsimmons-McLachlan-Gilbert
syndroom van spastische paraplegie, verstandelijke handicap en palmoplantaire keratodermie
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
Fitzsimmons McLachlan Gilbert syndrome
This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
Id722209002
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
Associated morphologyhyperkeratose
Finding sitestructuur van huid
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG82.1
RuleTRUE
AdviceALWAYS G82.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified