syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier (aandoening) | | syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier | | syndroom van malformatie van hersenen, ernstige verstandelijke handicap, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier BRESEK-syndroom syndroom van malformatie van hersenen, ernstige mentale retardatie, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier
| | BRESEK syndrome | | Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome X-linked mental retardation Reish type BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome
| | A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. |
| Id | 717945001 | 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 |
|
SNOMED CT to Orphanet simple map | 85284 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | 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 |
|
|