Preferred Name |
Fanconi Syndrome |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3034 |
ALT_DEFINITION |
A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction. |
code |
C3034 |
Concept_In_Subset | |
Contributing_Source |
NICHD MedDRA |
DEFINITION |
A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. |
FULL_SYN |
De Toni-Debre-Fanconi Syndrome Lignac-Fanconi Syndrome Fanconi's syndrome |
Has_NICHD_Parent | |
label |
Fanconi Syndrome |
Legacy_Concept_Name |
Fanconi_Syndrome |
NICHD_Hierarchy_Term |
Fanconi Syndrome |
Preferred_Name |
Fanconi Syndrome |
prefixIRI |
C3034 |
prefLabel |
Fanconi Syndrome |
Semantic_Type |
Disease or Syndrome |
UMLS_CUI |
C0015624 |
subClassOf |