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autosomaal recessieve spastische paraplegie type 18 (aandoening)
autosomaal recessieve spastische paraplegie type 18
SPG18
Autosomal recessive spastic paraplegia type 18
Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
Id732932004
StatusPrimitive
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map209951
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