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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. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.
Id733029008
StatusPrimitive
Clinical courseprogressief
Has interpretationverlaagd
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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