| Kosaki-overgroeisyndroom (aandoening) | | Kosaki-overgroeisyndroom | | overgroeisyndroom van Kosaki
syndroom van skeletale overgroei, craniofaciale dysmorfie, hyperelastische huid en wittestoflaesie
syndroom van overgroei van skelet, craniofaciale dysmorfie, hyperelastische huid en wittestofafwijking
| | Kosaki overgrowth syndrome | | Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. |
| | Id | 1172898008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 477831 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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