loading...| Preferred Name |
Galactosemias |
|
| Synonyms |
|
|
| Definitions |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038497 |
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| Database_Cross_Reference |
NCI_NICHD:C84723 MTH:NOCODE MSH:D005693 ICD9CM:271.1 AOD:0000005717 LCH:U001900 MDR:10017604 DXP:U000689 LNC:LP56739-3 LCH_NW:sh85052749 SNOMEDCT_US:190747003 HPO:HP:0012024 SNOMEDCT_US:190745006 SNOMEDCT_US:154738008 ICD10CM:E74.21 MDR:10017610 LNC:MTHU021572 CHV:0000005317 RCD:C311. MDR:10017605 SNM:D-1270 DXP:U001633 SNOMEDCT_US:38177000 OMIM:MTHU012915 SNMI:D6-50500 NCI:C84723 SNOMEDCT_US:267498002 DO:DOID:9870 RCD:C311z MEDCIN:33546 NDFRT:N0000001303 RCDAE:C311. CSP:1849-3608 HPO:HP:0004919 RCDAE:C311z SNOMEDCT_US:190749000 |
|
| Definition |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
|
| label |
Galactosemias |
|
| MCID |
MC00005382 |
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| PMOID |
PMO:00038497 |
|
| prefixIRI |
pmo:PMO_00038497 |
|
| prefLabel |
Galactosemias |
|
| Synonym |
Galactose intolerance, NOS Galactosemia (disorder) Galactosaemia Galactosaemia, NOS GALACTOSE INTOLERANCE Galactose intolerance Galactosaemia NOS Galactosemia NOS (disorder) Galactosemia, NOS galactosemias galactosemia disorder galactosemia GALACTOSEMIA Galactosemias [Disease/Finding] galactosemia (diagnosis) Galactosemia galactosaemia Galactosemia (disorder) [Ambiguous] galactose intolerance Galactosemia NOS |
|
| Tree Number |
T9.21.15.5.17.2.8 T9.11.1.6.2.8 T9.11.1.12.15.2 T9.8.4.14.15.2 T9.11.1.12.8.8 T9.8.4.14.8.8 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036652 |