|||||||||||||
syndroom van ichthyosis congenita, microcefalie en tetraplegie (aandoening)
syndroom van ichthyosis congenita, microcefalie en tetraplegie
ELOVL4-gerelateerde ichtyose met neurologische verschijnselen
Congenital ichthyosis, microcephalus, tetraplegia syndrome
Congenital ichthyosis, microcephalus, quadriplegia syndrome
A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.
Id1197059004
StatusPrimitive
InterpretsMovement
Has interpretationverlaagd
Interpretsgehoorfunctie
Has interpretationafwijkend
Interpretskeratinisatie
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
ICD-10 complex map reference set
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