Fanconi Syndrome

Preferred Label : Fanconi Syndrome;

NCIt synonyms : De Toni-Debre-Fanconi Syndrome; Lignac-Fanconi Syndrome;

NCIt related terms : Fanconi's syndrome;

NCIt 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.;

Alternative definition : NICHD: A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction.;

Codes from synonyms : CDR0000044357;

Details

Origin ID

C3034;

UMLS CUI

C0015624;

Automatic exact mappings (from CISMeF team)
- Cystinosis (disorder) [SNOMED CT concept]
- Fanconi like syndrome [MeSH concept]
- Fanconi-like syndrome [MedDRA LLT]
- Infantile nephropathic cystinosis (disorder) [SNOMED CT concept]
- Syndrome Fanconi-like [MedDRA LLT]
- fanconi like syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- De Toni-Debre-Fanconi syndrome [PASCAL descriptor]
- FANCONI SYNDROME [WHO-ART Included Term]
- 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 XI [OMIM Phenotype]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Primary Fanconi renotubular syndrome [ORDO Disease]
- Renal Fanconi syndrome [HPO term]
- Toni-Debre-Fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome [MeSH concept]
- fanconi syndrome, nos [SNOMED Notion]
- glucoaminophosphaturia syndrome [SNOMED Notion]
DO Cross reference
- Fanconi syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi syndrome [DO Concept]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Proximal renal tubular dysfunction [MedDRA LLT]
- fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- 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.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]

Keyword's position in hierarchy(ies) :

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