fanconi syndrome

Preferred Label : fanconi syndrome;

MeSH definition : A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.;

MeSH synonym : syndrome, fanconi; proximal renal tubular dysfunction;

CISMeF synonym : fanconi's syndrome; cystinosins, defect of; de toni debre fanconi syndrome; defect of cystinosin; defect of cystinosins; idiopathic de toni debre fanconi syndrome; neonatal de toni debre fanconi syndrome; primary toni debre fanconi syndrome; syndrome, de toni-debre-fanconi; toni debre fanconi syndrome; Toni-Debre-Fanconi syndrome, primary;

MeSH hyponym : fanconi bickel syndrome; fanconi syndrome without cystinosis; Bickel Syndrome, Fanconi; Syndrome, Fanconi Bickel; Fanconi-Bickel Syndrome; Fanconi-Bickel Syndromes; Syndrome, Fanconi-Bickel; Syndromes, Fanconi-Bickel; Glycogen Storage Disease XI; Pseudo-Phlorizin Diabetes; Diabete, Pseudo-Phlorizin; Diabetes, Pseudo-Phlorizin; Pseudo Phlorizin Diabetes; Pseudo-Phlorizin Diabete; Hepatic Glycogenosis with Amino Aciduria and Glucosuria; Hepatic Glycogenosis with Fanconi Nephropathy; Hepatorenal Glycogenosis with Renal Fanconi Syndrome; Lignac-Fanconi Syndrome; Lignac Fanconi Syndrome; Syndrome, Lignac-Fanconi; Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance; Glycogenosis, Fanconi Type; Fanconi Type Glycogenosis; Renal Fanconi Syndrome; Fanconi Syndrome, Renal; Syndrome, Renal Fanconi; Luder-Sheldon Syndrome; Luder Sheldon Syndrome; Syndrome, Luder-Sheldon; Adult Fanconi Syndrome; Fanconi Syndrome, Adult; Syndrome, Adult Fanconi; Fanconi Renotubular Syndrome; Renotubular Syndrome, Fanconi; Syndrome, Fanconi Renotubular;

Related MeSH term : Toni-Debre-Fanconi syndrome; Primary Toni-Debre-Fanconi Syndrome; Neonatal De Toni-Debre-Fanconi Syndrome; De Toni-Debre-Fanconi Syndrome; Idiopathic De Toni-Debre-Fanconi Syndrome;

MeSH annotation : do not confuse with other diseases with FANCONI as part of the name;

Details

Origin ID

D005198;

UMLS CUI

C0015624;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult Fanconi Syndrome [NCIt concept]
- Adult Fanconi syndrome (disorder) [SNOMED CT concept]
- Cystinosis (disorder) [SNOMED CT concept]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Fanconi renotubular syndrome [OMIM phenotypic series]
- Fanconi-like syndrome [MedDRA LLT]
- Fanconi-like syndrome (disorder) [SNOMED CT concept]
- Global proximal tubulopathy [HPO term]
- Infantile nephropathic cystinosis (disorder) [SNOMED CT concept]
- Proximal Tubulopathy [NCIt concept]
- Proximal renal tubular dysfunction [MedDRA LLT]
- Syndrome Fanconi-like [MedDRA LLT]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
Currated CISMeF NLP mapping
- Cystinosis, nephropathic [OMIM Phenotype]
- De Toni-Debre-Fanconi syndrome [PASCAL descriptor]
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi Syndrome [NCIt concept]
- Fanconi renotubular syndrome 1 [OMIM Phenotype]
- Fanconi renotubular syndrome 1 [DO Concept]
- Fanconi syndrome [DO Concept]
- Fanconi syndrome [Disease (Nov.)]
- Fanconi syndrome [ICD-11 Sub-sub category]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Fanconi-bickel syndrome [OMIM Phenotype]
- Glucoaminophosphaturia syndrome (disorder) [SNOMED CT concept]
- Glycogen Storage Disease Type XI [NCIt concept]
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Nephropathic cystinosis [MedDRA LLT]
- Primary Fanconi renotubular syndrome [ORDO Disease]
- Renal Fanconi syndrome [HPO term]
- fanconi syndrome, nos [SNOMED Notion]
- glucoaminophosphaturia syndrome [SNOMED Notion]
DO Cross reference
- Fanconi syndrome [DO Concept]
False automatic mappings
- Fanconi renotubular syndrome 1 [OMIM Phenotype]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
HPO term
- Renal Fanconi syndrome [HPO term]
Ne pas confondre avec
- fanconi anemia [MeSH Descriptor]
Record concept(s)
- Toni-Debre-Fanconi syndrome [MeSH concept]
- fanconi bickel syndrome [MeSH concept]
- fanconi syndrome [MeSH concept]
- fanconi syndrome without cystinosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH Supplementary Concept]
- deal barratt dillon syndrome [MeSH Supplementary Concept]
- preeyasombat varavithya syndrome [MeSH Supplementary Concept]
See also
- dent disease [MeSH Descriptor]
- glucose transporter type 2 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi Syndrome [NCIt concept]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome [DO Concept]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Proximal renal tubular dysfunction [MedDRA LLT]
- fanconi syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease due to GLUT2 deficiency [ICD-11 More detail]
- glycogen storage disease type 11 [Disease (Nov.)]

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