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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Dyskeratosis Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Dyskeratosis Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Dyskeratosis Congenita
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Dyskeratosis Congenita

Terme préférentiel

Dyskeratosis Congenita  

Type

  • mesh:Descriptor

Définition

  • A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

Concept générique

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-QX850H97-1

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RDF/XML TURTLE JSON-LD Date de création 20/06/1997, dernière modification le 17/06/2019