Fanconi syndrome

ICD-11 code : GB90.42;

Preferred Label : Fanconi syndrome;

ICD-11 definition : Disorder associated with generalised dysfunction of the proximal tubule expressed as amino-aciduria, low molecular weight proteinuria, polyuria with sodium and potassium wasting, hyper-phosphaturia (hence bone disease), renal tubular acidosis, glycosuria and hypercalciuria.;

ICD-11 synonym : Renal Fanconi Syndrome; Fanconi renotubular syndrome; De Toni-Debre-Fanconi Syndrome;

ICD-11 inclusion : congenital Fanconi syndrome; Fanconi-de Toni syndrome;

Details

Origin ID

788002727;

Currated CISMeF NLP mapping
- 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 [MedDRA Preferred Term]
- Fanconi syndrome [DO Concept]
- Fanconi syndrome [Disease (Nov.)]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Glucoaminophosphaturia syndrome (disorder) [SNOMED CT concept]
- Primary Fanconi renotubular syndrome [ORDO Disease]
- Renal Fanconi syndrome [HPO term]
- Toni-Debre-Fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome, nos [SNOMED Notion]
- glucoaminophosphaturia syndrome [SNOMED Notion]
False automatic mappings
- Fanconi-bickel syndrome [OMIM Phenotype]
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
ICD-10 Mapping
- Disorders resulting from impaired renal tubular function [ICD-10 category]
See also inter- (CISMeF)
- Cystinosis [MedDRA Preferred Term]
- Cystinosis, nephropathic [OMIM Phenotype]
- cystinosis [MeSH Descriptor]
Validated automatic mappings to BTNT
- glycogen storage disease type 11 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Disorders resulting from impaired renal tubular function [ICD-10 category]

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