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neurofibromatóza 1
SYS d009456 LBL 00000cz--a2200000n--4500 005 20260529130032.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C04.557.580.600.580.590.650 065 $a C04.700.631.650 065 $a C10.562.600.500 065 $a C10.574.500.549.400 065 $a C10.668.829.675 065 $a C16.320.400.560.400 065 $a C16.320.700.633.650 066 $a 01 $c 03 150 $a neurofibromatóza 1 $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Cafe-au-Lait Spots with Pulmonic Stenosis $2 eng 450 $w v $a Molluscum Fibrosum $2 eng 450 $w v $a NF1 (Neurofibromatosis 1) $2 eng 450 $w v $a Neurofibromatosis I $2 eng 450 $w v $a Neurofibromatosis Type 1 $2 eng 450 $w v $a Neurofibromatosis Type I $2 eng 450 $w v $a Neurofibromatosis, Peripheral Type $2 eng 450 $w v $a Neurofibromatosis, Peripheral, NF 1 $2 eng 450 $w v $a Neurofibromatosis, Peripheral, NF1 $2 eng 450 $w v $a Neurofibromatosis, Type 1 $2 eng 450 $w v $a Neurofibromatosis, Type I $2 eng 450 $w v $a Peripheral Neurofibromatosis $2 eng 450 $w v $a Pulmonic Stenosis with Cafe-au-Lait Spots $2 eng 450 $w v $a Recklinghausen Disease of Nerve $2 eng 450 $w v $a Recklinghausen Disease, Nerve $2 eng 450 $w v $a Recklinghausen's Disease of Nerve $2 eng 450 $w v $a Recklinghausens Disease of Nerve $2 eng 450 $w v $a Watson Syndrome $2 eng 450 $w v $a von Recklinghausen Disease $2 eng 450 $w v $a von Recklinghausen's Disease $2 eng 450 $w v $a škvrny café au lait s pulmonálnou stenózou $2 slo 450 $w v $a molluscum fibrosum $2 slo 450 $w v $a fibroma molluscum $2 slo 450 $w v $a neurofibromatóza 1. typu (NF1) $2 slo 450 $w v $a NF1 (neurofibromatóza typu 1) $2 slo 450 $w v $a neurofibromatóza I $2 slo 450 $w v $a neurofibromatóza typu 1 $2 slo 450 $w v $a neurofibromatóza typu I $2 slo 450 $w v $a neurofibromatóza, periférny typ $2 slo 450 $w v $a neurofibromatóza periférna, NF1 $2 slo 450 $w v $a neurofibromatóza, typ 1 $2 slo 450 $w v $a neurofibromatóza, typ I $2 slo 450 $w v $a neurofibromatóza periférna $2 slo 450 $w v $a stenóza pulmonálna so škvrnami café au lait $2 slo 450 $w v $a Recklinghausenova choroba nervov $2 slo 450 $w v $a Watsonov syndróm $2 slo 450 $w v $a von Recklinghausenova choroba $2 slo 450 $w v $a morbus von Recklinghausen $2 slo 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w p $a Noonanovej syndróm 550 $7 sllk_us_auth*d016514 $Y Genes, Neurofibromatosis 1 $w p $a gény neurofibromatózy 1 550 $7 sllk_us_auth*d025542 $Y Neurofibromin 1 $w p $a neurofibromín 1 550 $7 sllk_us_auth*d044542 $Y LEOPARD Syndrome $w p $a LEOPARD-syndróm 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w b $a Noonanovej syndróm 550 $7 sllk_us_auth*d016514 $Y Genes, Neurofibromatosis 1 $w b $a gény neurofibromatózy 1 550 $7 sllk_us_auth*d025542 $Y Neurofibromin 1 $w b $a neurofibromín 1 550 $7 sllk_us_auth*d044542 $Y LEOPARD Syndrome $w b $a LEOPARD-syndróm 665 $a 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 $2 eng 680 $a do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant $2 eng 680 9-
$i An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). $2 eng 750 -2
$a Neurofibromatosis 1 $2 eng 980 $x M
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