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Fanconi Syndrome (CUI C0015624) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0015624

NCI Thesaurus Code: C3034  (see NCI Thesaurus info)

Semantic Type: Disease or 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.

NICHD 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.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
'De Toni-Fanconi-Debre' syndrome
CTNS
De Toni-Debre-Fanconi Syndrome
De Toni-Fanconi syndrome
Fanconi syndrome (disorder)
Fanconi Syndrome [Disease/Finding]
Fanconi syndrome
Fanconi's syndrome
Lignac-Fanconi Syndrome
Primary Fanconi syndrome
Proximal Renal Tubular Dysfunction
Syndrome, Fanconi
Toni-Fanconi syndrome

External Source Codes: 
NCI Thesaurus Code C3034 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with other diseases with "FANCONI" as part of the name MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID XUDQa SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 19296 GARD
DISEASE_IDENTIFIER_ID 19377 GARD
DX 19650101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D051273 MSH
HAS_GARD_PAGE true GARD
HN 1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE use METABOLIC DISEASES 1963-1964 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
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. NDFRT
MESH_DUI D005198 NDFRT
MESH_NAME Fanconi Syndrome NDFRT
MESH_UI M0008225 NDFRT
MMR 20150622 MSH
MN C12.777.419.815.450 MSH
MN C13.351.968.419.815.450 MSH
MN C16.320.565.861.450 MSH
MN C18.452.648.861.450 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Fanconi Syndrome NCI
NUI N0000001208 NDFRT
PM 1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE see METABOLIC DISEASES 1963-1964 MSH
PRIMARY_PATH 10016219$10038431$10038360$10010331$Fanconi syndrome$Renal disorders congenital$Renal and urinary tract disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9120/toni-fanconi-syndrome/resources/1 GARD
RXAUI 3159829 RXNORM
RXAUI 3159830 RXNORM
RXAUI 3225658 RXNORM
RXCUI 1023599 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 236466005 NDFRT
SNOMED_CID 40488004 NDFRT
SNOMED_CID 62332007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E72.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E72.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E72.09 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E72.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUDQa SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T015949 MSH
TERMUI T015951 MSH
TH NLM (1965) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0015624

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