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Adult Fanconi syndrome (CUI C0341703) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0341703

NCI Thesaurus Code: C4377  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003

GARD Definition: Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body.  These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine.  Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age.  Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. - this information is from GARD/ORDR/NCATS.

HPO Definition: An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. [HPO:probinson]

Synonyms & Abbreviations: (see Synonym Details)
'de toni-fanconi-debre' syndrome
Adult Fanconi syndrome (disorder)
Adult Fanconi syndrome
Adult Fanconi's Syndrome
Amino acid-glucose defective tubular absorption
FANCONI RENOTUBULAR SYNDROME 1
Fanconi renotubular syndrome
Fanconi syndrome without cystinosis
Fanconi Syndrome, Adult
Fanconi Syndrome, Renal
FRTS1
FRTS
Glucoaminophosphate diabetes
Glucoaminophosphaturia syndrome (disorder)
Glucoaminophosphaturia syndrome
Luder Sheldon Syndrome
Luder-Sheldon Syndrome
Renal Fanconi syndrome
Renal tubular fanconi syndrome
Renotubular Syndrome, Fanconi
RFS
Syndrome, Adult Fanconi
Syndrome, Fanconi Renotubular
Syndrome, Luder-Sheldon
Syndrome, Renal Fanconi

External Source Codes: 
NCI Thesaurus Code C4377 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X30Js SNOMEDCT_US
CTV3ID XUEGk SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 3487 GARD
DISEASE_IDENTIFIER_ID 3488 GARD
DISEASE_IDENTIFIER_ID 3489 GARD
DISEASE_IDENTIFIER_ID 3490 GARD
DISEASE_IDENTIFIER_ID 3491 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,5,q,1,5,.,3, OMIM
GENESYMBOL FRTS1 OMIM
GENESYMBOL FRTS OMIM
GENESYMBOL RFS OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2006-03-24T00:00:00 GARD
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 227700 OMIM
MOVED_FROM 227800 OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9118/fanconi-renotubular-syndrome/resources/1 GARD
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~MAPADVICE~IF GLUCOAMINOPHOSPHATURIA SYNDROME WITH RICKETS AND IF AGE AT ONSET OF CLINICAL FINDING ON OR AFTER 18.0 YEARS CHOOSE M83.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF GLUCOAMINOPHOSPHATURIA SYNDROME WITH RICKETS CHOOSE E55.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF GLUCOAMINOPHOSPHATURIA SYNDROME WITH RICKETS CHOOSE E72.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 23569000 | Glucoaminophosphaturia syndrome with rickets | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | >= 18.0 years SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 23569000 | Glucoaminophosphaturia syndrome with rickets | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E55.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E72.09 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E72.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~M83.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X30Js SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUEGk 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 T654380 MSH
TERMUI T654381 MSH
TERMUI T801198 MSH
TERMUI T817209 MSH
TERMUI T817210 MSH
TH NLM (2007) MSH
TH NLM (2013) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0341703

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