| syndroom van encefalopathie, intracerebrale calcificatie en retinadegeneratie (aandoening) | | syndroom van encefalopathie, intracerebrale calcificatie en retinadegeneratie | | syndroom van Bonnemann-Meinecke-Reich
| | Encephalopathy, intracerebral calcification, retinal degeneration syndrome | | Bonnemann Meinecke Reich syndrome
| | A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
| | Id | 733049004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.8 | | Term | Overige gespecificeerde congenitale misvormingen van hersenen |
| Target | H35.5 | | Term | Hereditaire retinadystrofie |
|
| SNOMED CT to Orphanet simple map | 1261 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
