loading...| Preferred Name |
inborn errors of metabolism |
| Definitions |
"A simple genetic disease that comprises a large class of genetic diseases involving disorders of metabolism." [url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism] |
| ID |
http://purl.obolibrary.org/obo/DOID_655 |
| comment |
"A simple genetic disease that comprises a large class of genetic diseases involving disorders of metabolism." [url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism] “包含涉及代谢紊乱的大类遗传疾病的简单遗传疾病”。 [URL：http：//en.wikipedia.org/wiki/Inborn_errors_of_metabolism] |
| label |
inborn errors of metabolism 先天性代谢缺陷 |
| prefixIRI |
DOID:655 |
| prefLabel |
inborn errors of metabolism |
| seeAlso |
UMLS_CUI:C0025521 MSH2010_2010_02_22:D008661 NCI2009_04D:C34816 URI: http://www.ebi.ac.uk/cellline#inborn_errors_of_metabolism SNOMEDCT_2010_1_31:86095007 SNOMEDCT_2010_1_31:363205007 |
| 引自 | |
| 替代术语 |
“代谢先天性错误” EXACT [NCI2004_11_17：C34816] “先天性代谢紊乱” EXACT [CSP2005：1849-0057] "inborn metabolism disorder" EXACT [CSP2005:1849-0057] "Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007] “代谢先天性错误（疾病）” EXACT [SNOMEDCT_2005_07_31：86095007] "Inborn error of metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:86095007] “代谢遗传病” EXACT [SNOMEDCT_2005_07_31：363205007] "Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816] |
| subClassOf |