| Spectrin-associated autosomal recessive cerebellar ataxia (disorder) | | Spectrin-associated autosomal recessive cerebellar ataxia | | Autosomal recessive cerebellar ataxia, cognitive defect syndrome
Autosomal recessive spinocerebellar ataxia type 14
Spectrin-associated autosomal recessive cerebellar ataxia type 1
| | A rare genetic neurological disease due to SPTBN2 (spectrin beta, non-erythrocytic 2) mutations. The disease has characteristics of global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Caused by homozygous mutation in the SPTBN2 gene on chromosome 11q13. | | spectrine-gerelateerde autosomaal recessieve cerebellaire ataxie | | autosomaal recessieve spinocerebellaire ataxie type 14
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| | Id | 763351003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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