神経皮膚症候群
WordNet
- bring disorder to (同)disarray
- a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
- a disturbance of the peace or of public order
- not arranged in order (同)unordered
PrepTutorEJDIC
- 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
UpToDate Contents
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English Journal
- Peripheral muscle weakness in RASopathies.
- Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, J Okumura M, Reinker K, Johnson B, Rauen KA.SourceUniversity of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132. david.stevenson@hsc.utah.edu.
- Muscle & nerve.Muscle Nerve.2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.
- Introduction: RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies. Methods:
- PMID 22907230
- [Diagnostic delay of rare diseases in Europe and in Hungary].
- Földvári A, Szy I, Sándor J, Pogány G, Kosztolányi G.SourceDebreceni Egyetem, Orvos- és Egészségtudományi Centrum, Népegészségügyi Kar, Megelőző Orvostani Intézet, Biostatisztikai és Epidemiológiai Tanszék Debrecen Kassai út 26. 4012, Hungary.
- Orvosi hetilap.Orv Hetil.2012 Jul 29;153(30):1185-90.
- The long diagnostic delay is a characteristic problem of rare disease patients.AIMS: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations.METHODS: 252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa,
- PMID 22835635
Japanese Journal
- Sturge-Weber syndrome: report of an unusual cutaneous distribution
- INAN Cigdem,MARCUS Joseph
- Brain & development 21(1), 68-70, 1999-01
- NAID 10007332104
- 森 惟明
- 先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 21(4), 515-525, 1981-12-30
- NAID 110002727809
Related Links
- Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They're caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body ...
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- 英
- neurocutaneous syndrome、neurocutaneous disorder
- 関
- 母斑症 phakomatosis
- 外胚葉異常により皮膚母斑や神経腫瘍を生じる先天性疾患
- 神経線維腫症2型, neurofibromatosis type 2, NF2
- 結節性硬化症, tuberous sclerosis
- ポイツ・イェーガー症候群, Peutz-Jeghers syndrome:顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))、眼の脈絡膜血管腫、脳軟膜の血管腫 → 中枢神経症状(乳幼児期からの痙攣発作、大脳半球萎縮、石灰化、知能障害)、眼症状(脈絡膜の血管腫による眼圧亢進、緑内障 → 牛眼 )
- 色素失調症, incontinentia pigmenti, ブロッホ・ザルツバーガー症候群, Bloch-Sulzberger syndrome
- スタージ・ウェーバー症候群, Sturge-Weber syndrome:遺伝性無し。皮膚症状:顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1)) 。中枢神経症状:顔面血管腫が存在する側の特に後頭葉に脳軟膜の血管腫が発生 (NDE.349)。乳幼児期からの血管発作。大脳半球萎縮、石灰化、知能障害。眼症状:緑内障(牛眼)
- クリッペル・トレノーニイ・ウェーバー症候群, Klippel-Trenaunay-Weber syndrome
- 神経皮膚黒色症, neurocutaneous smelanosis
- 汎発性黒子症候群, lentiginosis profusa, LEOPARD症候群
- 基底細胞母斑症候群, basal cell nevus syndrome
- フォン・ヒッペル・リンドウ病, von Hippel-Lindau disease:常染色体優性遺伝。
- 色素血管母斑症, phacomatosis pigmentovascularis, オスラー病, Osler disease
- 遺伝性出血性毛細血管拡張症, hereditary hemorrhagic telangiectasia
- 青色ゴムマリ様母斑症候群, blue rubber-bleb nevus syndrome
- マフッチ症候群, Maffucci's syndrome
- Zinsser-Cole-Engman症候群, Zinsser-Cole-Engman syndrome
- 先天性角化異常症, dyskeratosis congenita
- 表皮母斑症候群, epidermal nervus syndrome
- 先天性血管拡張性大理石様皮斑, cutis marmorata telangiectatica congenita
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- 英
- phacomatosis, phakomatosis
- 関
- 神経皮膚症候群、neurocutaneous disorder、neurocutaneous syndrome
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phakomatosis : 約 40,200 件
phacomatosis : 約 51,900 件
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- 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
- an untidy state; a lack of order or organization (⇔order)
- violent behaviour of large groups of people
- an illness that cause a part of the body to stop functioning correctly
- disease <> illness <> disorder
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。