|X-gebonden neurodegeneratief syndroom van type Bertini (aandoening)|
X-gebonden neurodegeneratief syndroom van type Bertini
X-linked neurodegenerative syndrome Bertini type
This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|