| syndroom van acuut infantiel leverfalen, cerebellaire ataxie en perifere sensorische en motorische neuropathie (aandoening) | | syndroom van acuut infantiel leverfalen, cerebellaire ataxie en perifere sensorische en motorische neuropathie | | autosomaal recessieve spinocerebellaire ataxie type 21
SCAR21
| | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome | | Autosomal recessive spinocerebellar ataxia type 21
| | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
| | Id | 1187643003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466794 |
| SNOMED CT to ICD-10 extended map | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | 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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