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spastische paraparese gelijktijdig met doofheid (aandoening)
spastische paraparese gelijktijdig met doofheid
Spastic paraparesis and deafness
Wells Jankovic syndrome
Spastic paraparesis co-occurrent with deafness
A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.
Id715504003
StatusPrimitive
Has interpretationverhoogd
Interpretsspiertonus
Interpretsgehoorfunctie
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
TargetH91.9
TermGehoorverlies, niet gespecificeerd
SNOMED CT to Orphanet simple map2815
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH91.9
RuleTRUE
AdviceALWAYS H91.9
CorrelationSNOMED CT source code to target map code correlation not specified