aandoening van zintuiglijke functies
complexe autosomaal dominante hereditaire spastische paraplegie
hereditair gehoorverlies
perceptief gehoorverlies
verminderd gehoor
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autosomaal dominante spastische paraplegie type 29 (aandoening)
autosomaal dominante spastische paraplegie type 29
SPG29
Autosomal dominant spastic paraplegia type 29
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
Id733029008
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Clinical courseprogressief
Finding sitestructuur van auditief systeem
Has interpretationverlaagd
Interpretsgehoorfunctie
Finding sitestructuur van rechter onderste extremiteit
Finding sitestructuur van linker onderste extremiteit
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map101009
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