| Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) | | BRESEK syndrome | | Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
X-linked mental retardation Reish type
| | X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, 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 whom 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. | | syndroom van malformatie van hersenen, ernstige verstandelijke beperking, 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
syndroom van malformatie van hersenen, ernstige verstandelijke handicap, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier
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| | Id | 717945001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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