Neurofibromatosis type 1 (Q46687): Difference between revisions
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Neurofibromatose tipo 1 (NF1) é um transtorno neurocutâneo multissistêmico hereditário, que predispõe ao desenvolvimento de tumores benignos e malignos. Dois dos seguintes critérios são necessários para diagnosticar NF1: seis ou mais manchas "café com leite"; neurofibromas, ou seja, tumores da bainha nervosa periférica manifestando-se como lesões cutâneas, subcutâneas ou plexiformes; sardas em dobras de pele; dois ou mais nódulos de Lisch na íris; glioma de via óptica; displasia óssea específica (afinamento do córtex de ossos longos, displasia da asa do esfenoide), e um parente de primeiro grau afetado | |||
| description / en | description / en | ||
Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative. | |||
Revision as of 15:27, 13 August 2026
Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2D.10 |
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| English | Neurofibromatosis type 1 |
Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative. |
