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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 rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.
Id715504003
StatusPrimitive
Has interpretationverhoogd
Interpretsspiertonus
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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