loading...| Preferred Name |
maple syrup urine disease |
|
| Synonyms |
"Maple syrup urine disease" EXACT [MTHICD9_2006:270.3] "Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001] "branched chain ketoaciduria" EXACT [CSP2005:1849-1063] |
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| Definitions |
"Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] |
|
| ID |
http://purl.obolibrary.org/obo/DOID_9269 |
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| comment |
"Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] |
|
| alternative term |
"Maple syrup urine disease" EXACT [MTHICD9_2006:270.3] "Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001] "branched chain ketoaciduria" EXACT [CSP2005:1849-1063] |
|
| label |
maple syrup urine disease |
|
| prefixIRI |
DOID:9269 |
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| prefLabel |
maple syrup urine disease |
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| see also |
UMLS_CUI:C0024776 SNOMEDCT_2010_1_31:27718001 MSH2010_2010_02_22:D008375 URI: http://www.ebi.ac.uk/cellline#maple_syrup_urine_disease NCI2009_04D:C34806 OMIM2009_05_01:248600 |
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| subClassOf |
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