| syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie (aandoening) | | syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie | | syndroom van Feigenbaum-Bergeron-Richardson
| | Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome | | Feigenbaum Bergeron Richardson syndrome
| | A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
| | Id | 720519003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1192 |
| SNOMED CT to ICD-10 extended map | | Target | I70.90 | | Rule | TRUE | | Advice | ALWAYS I70.90 | MAPPED FOLLOWING WHO GUIDANCE | 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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