| autosomaal recessieve spastische paraplegie type 15 (aandoening) | | autosomaal recessieve spastische paraplegie type 15 | | SPG15
syndroom van Kjellin
| | Autosomal recessive spastic paraplegia type 15 | | Kjellin syndrome
Spastic paraplegia, retinal degeneration syndrome
Hereditary spastic paraparesis type 15
| | A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. |
| | Id | 764686003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.4 | | Term | Hereditaire spastische paraplegie |
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| SNOMED CT to Orphanet simple map | 100996 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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