|syndroom van cataract, nefropathie en encefalopathie (aandoening)|
syndroom van cataract, nefropathie en encefalopathie
syndroom van Crome
Congenital cataract, nephropathy, encephalopathy syndrome
A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|