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Glycosuria, Renal (CUI C0017980) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017980

Semantic Type: Disease or Syndrome

GARD Definition: Renal glycosuria is a rare condition in which the simple sugar glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in those with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are the primary components of the filtering units of the kidneys. In most affected individuals, the condition causes no apparent symptoms or serious effects. When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait. - this information is from GARD/ORDR/NCATS.

MSH Definition: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.

Synonyms & Abbreviations: (see Synonym Details)
Familial renal glucosuria (disorder)
Familial renal glucosuria
GLYCOSURIA RENAL
Glycosuria, Renal [Disease/Finding]
GLYCOSURIA, RENAL
GLYS1
GLYS
Renal diabetes
Renal glucosuria
Renal glycosuria (disorder)
renal glycosuria
SGLT2 deficiency

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000448009 SNOMEDCT_US
CTV3ID XE11P SNOMEDCT_US
CTV3ID XU2PI SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0551-4940 CSP
DISEASE_IDENTIFIER_ID 33608 GARD
DISEASE_IDENTIFIER_ID 33609 GARD
DISEASE_IDENTIFIER_ID 5597 GARD
DX 19650101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,6,p,1,1,.,2, OMIM
GENESYMBOL SGLT2 OMIM
GENESYMBOL SLC5A2 OMIM
HAS_GARD_PAGE true GARD
HN 65 MSH
ICE Renal diabetes ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IPX E74.8 ICPC
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene. NDFRT
MESH_DUI D006030 NDFRT
MESH_NAME Glycosuria, Renal NDFRT
MESH_UI M0009503 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C12.777.419.815.532 MSH
MN C12.777.934.363.450 MSH
MN C13.351.968.419.815.532 MSH
MN C13.351.968.934.363.450 MSH
MN C16.320.565.861.532 MSH
MN C18.452.394.937.450 MSH
MN C18.452.648.861.532 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001370 NDFRT
PM 65 MSH
PRIMARY_PATH 10038457$10029150$10029149$10038359$Renal glycosuria$Nephropathies and tubular disorders NEC$Nephropathies$Renal and urinary disorders MDR
PRIMARY_SOC 10038359 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/7548/renal-glycosuria/resources/1 GARD
RXAUI 3166546 RXNORM
RXAUI 3166547 RXNORM
RXAUI 3231498 RXNORM
RXAUI 5039904 RXNORM
RXCUI 1023497 RXNORM
SMQ_TERM_ADDVERSION 17.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 17.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 226309007 NDFRT
SNOMED_CID 236367002 NDFRT
SNOMED_CID 267430007 NDFRT
SNOMED_CID 367418000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.8 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~E74.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.8 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF JUVENILE CATARACT, MICROCORNEA, RENAL GLUCOSURIA SYNDROME CHOOSE E74.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF JUVENILE CATARACT, MICROCORNEA, RENAL GLUCOSURIA SYNDROME CHOOSE H26.009 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF JUVENILE CATARACT, MICROCORNEA, RENAL GLUCOSURIA SYNDROME CHOOSE Q13.4 | 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~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 722457005 | Juvenile cataract, microcornea, renal glucosuria syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E74.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H26.009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q13.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE11P SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU2PI 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 T018338 MSH
TERMUI T657960 MSH
TERMUI T811591 MSH
TH NLM (1965) MSH
TH NLM (2007) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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