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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Albinism > Piebaldism
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Albinism > Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Albinism > Piebaldism
Eye Diseases > Eye Diseases, Hereditary > Albinism > Piebaldism
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Piebaldism
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Piebaldism
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Pigmentation Disorders > Hypopigmentation > Albinism > Piebaldism
... > Skin and Connective Tissue Diseases > Skin Diseases > Pigmentation Disorders > Hypopigmentation > Albinism > Piebaldism

Terme préférentiel

Piebaldism  

Type

  • mesh:Descriptor

Définition

  • Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

Concept générique

Concepts associés

Synonyme(s)

  • Albinism, Cutaneous
  • Albinism, Partial
  • Piebald Trait

Qualificatif(s) autorisé(s)

Traductions

  • Piébaldisme

    français

  • Albinisme localisé
  • Albinisme partiel

URI

http://data.loterre.fr/ark:/67375/JVR-XGH098WV-P

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RDF/XML TURTLE JSON-LD Date de création 06/06/1990, dernière modification le 01/07/2016