| syndroom van spastische paraplegie, verstandelijke beperking, nystagmus en obesitas (aandoening) | | syndroom van spastische paraplegie, verstandelijke beperking, nystagmus en obesitas | | syndroom van spastische paraplegie, mentale retardatie, nystagmus en adipositas
syndroom van spastische paraplegie, verstandelijke handicap, nystagmus en obesitas
| | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | | SINO syndrome
| | A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity or hypermetropia) and obesity. Additional manifestations are brachycephaly/plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
| | Id | 1260134001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 521390 |
| 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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