| ISA | CONGENITAL-ANOMALY |
| ANCESTORS | ALL CHANGE-STATE CHANGE-STATE-ANIMAL CONGENITAL-ANOMALY DISEASE-EVENT EVENT LIVING-EVENT PHYSICAL-EVENT |
| von Recklinghausen's neurofibromatosis | term type: main entry term reliability code: 10 part of speech: noun number: singular definition: inherited disease characterized by spots of increased skin pigmentation, combined with multiple, often soft, peripheral nerve tumours and a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels. The peripheral nerve tumors, which occasionally become malignant, are of two types, schwannomas and neurofibromas. Symptoms of Von Recklinghausen's neurofibromatosis include mental retardation, seizures, hydrocephalus, and other neurological complications. The incidence accounts for 1 per 3.000 births and present in about 30 persons per 10.000 population. (en) |
| neurofibromatosis de Recklinhausen | term type: main entry term reliability code: 10 part of speech: noun number: singular gender: feminine definition: enfermedad congénita caracterizada por lunares con una pigmentación más oscura, combinada con varios tumores de nervios periféricos que suelen ser blandos y una variedad de otras anomalías displásicas dela piel, sistema nervioso, huesos, órganos endocrinos y vasos sanguíneos. Los tumores de nervios periféricos, que se pueden volver cancerosos son de dos tipos: schwannomas y neurofibromas. Los síntomas de la neurofibromatosis de Recklinghausen comprenden retraso mental, hidrocefalia y otras complicaciones neurológicas. La incidencia constituye uno de cada 3000 nacimientos y se manifiesta en el 30% de la población. (es) |