| progressief autosomaal recessief syndroom van cerebellaire ataxie en perceptief gehoorverlies (aandoening) | | progressief autosomaal recessief syndroom van cerebellaire ataxie en perceptief gehoorverlies | | SCAR19
progressief autosomaal recessief syndroom van ataxie en doofheid
Lichtenstein-Knorr-syndroom
autosomaal recessieve spinocerebellaire ataxie type 19
| | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | | Progressive autosomal recessive ataxia, deafness syndrome
Lichtenstein Knorr syndrome
SCAR19 - spinocerebellar ataxia, autosomal recessive 19
| | A rare genetic disease with characteristics of severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. |
| | Id | 1237413006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 448251 |
| 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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