Primary Fanconi Syndrome

Preferred Label : Primary Fanconi Syndrome;

Alternative definition : NICHD: A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.;

NCI Metathesaurus CUI : CL497096;

Details

Origin ID

C123229;

UMLS CUI

C1857395;

Automatic exact mappings (from CISMeF team)
- Congenital Fanconi syndrome (disorder) [SNOMED CT concept]
- Fanconi syndrome associated with familial or genetic disorders elsewhere classified [Vue CIM-11]
- Primary Fanconi renotubular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Fanconi syndrome (disorder) [SNOMED CT concept]
- De Toni-Fanconi syndrome [MedDRA LLT]
- Fanconi syndrome congenital [MedDRA LLT]
- Renal Fanconi syndrome [HPO term]
- Toni-Debre-Fanconi syndrome [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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