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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Rothmund-Thomson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Rothmund-Thomson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Rothmund-Thomson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Rothmund-Thomson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Rothmund-Thomson Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Rothmund-Thomson Syndrome

Terme préférentiel

Rothmund-Thomson Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Concept générique

Concepts associés

Synonyme(s)

  • Congenital Poikiloderma
  • Poikiloderma Atrophicans and Cataract
  • Poikiloderma Congenitale
  • Poikiloderma Congenitale of Rothmund-Thomson
  • Poikiloderma of Rothmund-Thomson

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-ZF2HCQ6X-4

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 18/06/2015