| ID |
http://id.who.int/icd/entity/2129036552 |
| Preferred Name |
Ataxie-télangiectasie |
| Definitions |
Ataxia-Telangiectasia (A-T) is a DNA repair disorder defined by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and increased risk of cancer. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | Ataxia-Teleangiektasie (a-t) ist eine Dna-Reparaturstörung, die durch die Assoziation von schwerer kombinierter Immunschwäche (die hauptsächlich die humorale Immunantwort betrifft) mit progressiver zerebellärer Ataxie definiert wird. Sie ist durch neurologische Symptome, Teleangiektasien, erhöhte Infektionsanfälligkeit und erhöhtes Krebsrisiko gekennzeichnet. ataxie-télangiectasie (a-t) est un trouble de réparation de l'adn défini par l'association d'une immunodéficience combinée grave (affectant principalement la réponse immunitaire humorale) et d'une ataxie cérébelleuse progressive caractérisée par des signes neurologiques, des télangiectasies, une susceptibilité accrue aux infections et un risque accru de cancer. ataxia-telangiectasia (a-t) jest dna zaburzenia naprawy określone przez stowarzyszenie ciężkiej immunodeficiency kombinowanego (wpływa głównie na humoralną odpowiedź immunologiczną) z progresywnym atakiem móżdżku. charakteryzuje się neurologicznymi znakami, telangiectasias, narosła podatność infekcje i narosły ryzyko nowotwór. ataxia-telangiectasia (a-t) is a dna repair disorder defined by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) με προοδευτική εγκεφαλική απόκριση, χαρακτηρίζεται από νευρολογικά σημάδια, τελαγγειεκτασίες, αυξημένη ευαισθησία στις λοιμώξεις και αυξημένο κίνδυνο εμφάνισης καρκίνου. Ataxia-Telangiectasia (A-T) is a DNA repair disorder defined by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and increased risk of cancer. |
| broaderTransitive | http://id.who.int/icd/entity/1362501774 http://id.who.int/icd/entity/1520135105 http://id.who.int/icd/entity/103932378 http://id.who.int/icd/entity/1697597215 http://id.who.int/icd/entity/1951601890 |
| prefLabel | Ataxie-télangiectasie |
| browserUrl | NA |
| label | Ataxia-telangiectasia ataxia-telangiectasia ataxia-telangiectasia Ataxie-Teleangiektasie Ataxie-télangiectasie |
| subClassOf | http://id.who.int/icd/entity/1951601890 http://id.who.int/icd/entity/1186249543 http://id.who.int/icd/entity/1362501774 http://id.who.int/icd/entity/264268169 http://id.who.int/icd/entity/1520135105 |
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