| syndroom van neurologische ontwikkelingsachterstand, hypotonie, cerebellaire ataxie en cardiale geleidingsstoornis (aandoening) | | syndroom van neurologische ontwikkelingsachterstand, hypotonie, cerebellaire ataxie en cardiale geleidingsstoornis | | syndroom van neurologische ontwikkelingsachterstand, hypotonie, cerebellaire ataxie en hartgeleidingsstoornis
| | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | | Cerebellar ataxia, brain abnormalities, cardiac conduction defects syndrome
Neurodevelopmental delay, hypotonia, cerebellar atrophy, cardiac conduction defects syndrome
| | A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
| | Id | 1303586006 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G11.8 | | Rule | TRUE | | Advice | ALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F82 | | Rule | TRUE | | Advice | ALWAYS F82 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F72.9 | | Rule | TRUE | | Advice | ALWAYS F72.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | M62.89 | | Rule | TRUE | | Advice | ALWAYS M62.89 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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