| syndroom van spastische paraparese, ernstige ontwikkelingsachterstand en epilepsie (aandoening) | | syndroom van spastische paraparese, ernstige ontwikkelingsachterstand en epilepsie | | syndroom van spastische paraplegie, ernstige ontwikkelingsachterstand en epilepsie
| | Spastic paraplegia, severe developmental delay, epilepsy syndrome | | SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome
| | A rare genetic complex spastic paraplegia disorder with characteristics of infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. |
| | Id | 1187278006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 464282 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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