| 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
| | X-linked syndrome with characteristics of brain anomalies, severe 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 (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant. |
| | 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 |
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| 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 |
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