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syndromale X-gebonden verstandelijke beperking door 'jumonji at-rich interactive domain 1c'-mutatie (aandoening)
syndromale X-gebonden verstandelijke handicap door JARID1C-mutatie
syndromale X-gebonden mentale retardatie door 'jumonji at-rich interactive domain 1c'-mutatie
syndromale X-gebonden verstandelijke beperking door 'jumonji at-rich interactive domain 1c'-mutatie
Syndromic X-linked intellectual disability due to JARID1C mutation
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation
Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation
This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.
Id719161008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified