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alpha, alpha-Trehalase deficiency (CUI C0268187) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0268187

Semantic Type: Disease or Syndrome

GARD Definition: Trehalase deficiency is a metabolic condition in which the body is not able to convert trehalose, a disaccharide found in mushrooms, algae and insects, into glucose.  Individuals with this deficiency experience vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose. Studies suggest that this condition is very rare in white Americans, very frequent in Greenland natives (where it has been reported in 8% of the population), and not infrequent among Finns.  However, since ingestion of large quantities of foods containing trehalose in not common, the real frequency in unknown. Most cases appear to be inherited in an autosomal recessive manner.   - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
alpha, alpha-Trehalase deficiency (disorder)
alpha, alpha-Trehalase deficiency
Trehalase deficiency
Trehalose intolerance

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID X40Tm 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 21748 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 1 MSH
GENELOCUS ,1,1,q,2,3, OMIM
GENESYMBOL TREH OMIM
HAS_GARD_PAGE true GARD
HM D002239 MSH
HM D003967 MSH
HM D014198/Q000172 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-01-26T00:00:00 GARD
MDA 20121105 MSH
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MMR 20131106 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10372/trehalase-deficiency/resources/1 GARD
RN 0 MSH
SC 3 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.3 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~E74.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.8 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~E74.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40Tm 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 T801043 MSH
TERMUI T801044 MSH
TH OMIM (2013) 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=C0268187

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