| syndroom van psychomotorische regressie, oculomotorische apraxie, bewegingsstoornis en nefropathie (aandoening) | | syndroom van psychomotorische regressie, oculomotorische apraxie, bewegingsstoornis en nefropathie | | syndroom van psychomotorische achteruitgang, oculomotorische apraxie, bewegingsstoornis en aandoening van nier
| | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome | | Cerebrorenal syndrome Perez type
| | A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalemia. |
| | Id | 1187043002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 505242 |
| SNOMED CT to ICD-10 extended map | | Target | E83.2 | | Rule | TRUE | | Advice | ALWAYS E83.2 | 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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