Hyppää sisältöön

Medical Subject Headings

Hae sanastosta

Sisällön kieli

Käsitteen tiedot

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Bloom Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Bloom Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Primary Immunodeficiency Diseases > Bloom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Primary Immunodeficiency Diseases > Bloom Syndrome

Käytettävä termi

Bloom Syndrome  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Ohjaustermit

  • Bloom's Syndrome
  • Bloom's Syndromes
  • Bloom Torre Machacek Syndrome
  • Bloom-Torre-Machacek Syndrome
  • Congenital Telangiectatic Erythema
  • Congenital Telangiectatic Erythemas
  • Erythema, Congenital Telangiectatic
  • Telangiectatic Erythema, Congenital

Käyttöhuomautus

  • An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Huomautus muutoshistoriasta

  • 82

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D001816

Lataa tämä käsite:

RDF/XML TURTLE JSON-LD Luotu 23.2.1981, viimeksi muokattu 11.4.2022