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... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial
Nutritional and Metabolic Diseases > Metabolic Diseases > Phosphorus Metabolism Disorders > Hypophosphatemia > Hypophosphatemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hypophosphatemia, Familial
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hypophosphatemia, Familial

Preferred term

Hypophosphatemia, Familial  

Type

  • mesh:Descriptor

Definition

  • An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Broader concept

Narrower concepts

Synonym(s)

  • Familial Hypophosphatemia

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-MJ2DK2C7-5

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