Generated by OntoTerm. Updated: 28/08/2002 3:26:56

VON-RECKLINHAUSEN'S-NEUROFIBROMATOSIS


origination date: 22/05/2002
originator: Clara
subject field: medicine: disease
check date: 10/06/2002
checker: Pamela

Conceptual Structures
ISACONGENITAL-ANOMALY
ANCESTORSALL
CHANGE-STATE
CHANGE-STATE-ANIMAL
CONGENITAL-ANOMALY
DISEASE-EVENT
EVENT
LIVING-EVENT
PHYSICAL-EVENT


English
von Recklinghausen's neurofibromatosisterm 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)

Spanish
neurofibromatosis de Recklinhausenterm 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)