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X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum (aandoening)
X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum
Oligophrenin-1-syndroom
X-gebonden syndroom van verstandelijke handicap en hypoplasie van cerebellum
OPHN1-syndroom
X-gebonden syndroom van mentale retardatie en hypoplasie van cerebellum
X-linked intellectual disability with cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern.
Id719136005
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified