National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3149

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101

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http://purl.obolibrary.org/obo/DOID_1062 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D005198 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU006718 Online Mendelian Inheritance in Man LOOM