autosomaal dominante hereditaire spastische paraplegie
|
autosomaal dominante spastische paraplegie type 13 (aandoening)
autosomaal dominante spastische paraplegie type 13
autosomaal dominante spastische paraparese type 13
SPG13
Autosomal dominant spastic paraplegia type 13
A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.
Id783698005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Clinical courseprogressief
InterpretsMovement
Finding sitestructuur van rechter onderste extremiteit
Finding sitestructuur van linker onderste extremiteit
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
SNOMED CT to Orphanet simple map100994
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified