Autosomal dominant hereditary spastic paraplegia
|
Autosomal dominant spastic paraplegia type 13 (disorder)
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.
autosomaal dominante spastische paraplegie type 13
autosomaal dominante spastische paraparese type 13
SPG13
Id783698005
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Finding siteLower limb structure
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified