loading...| Preferred Name |
disease of metabolism |
| Definitions |
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) |
| ID |
http://www.ebi.ac.uk/efo/EFO_0000589 |
| comment |
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) 由代谢过程异常引起的先天性（由于遗传性酶异常）或获得性（由于代谢性重要器官衰竭）的疾病。 - 2003年 由异常代谢过程引起的疾病的总称。由于遗传性酶异常（代谢，缺陷）可能是先天性的或由于内分泌器官疾病或代谢重要器官的衰竭，如肝衰竭，而可能是获得性的。 （Stedman，第二十六版） A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003 |
| definition source |
GeneRIF:12815182 ICD9:277.9 GeneRIF:12707035 GeneRIF:15677734 SNOMEDCT:75934005 GeneRIF:15231871 GeneRIF:12093894 GeneRIF:12824951 GeneRIF:15246202 SNOMEDCT:30390004 GeneRIF:12215968 GeneRIF:16018179 MSH:D008659 GeneRIF:12242462 DOID:0014667 NCIt:C3235 SNOMEDCT:267456000 GeneRIF:14592951 GeneRIF:15277400 |
| label |
代谢疾病 disease of metabolism |
| prefixIRI |
efo:EFO_0000589 |
| prefLabel |
disease of metabolism |
| seeAlso | |
| 引自 | |
| 替代术语 |
全身性代谢性病症（紊乱） 代谢疾病(metabolic disease) metabolic disease Generalized metabolic disorder (disorder) Thesaurismoses 代谢紊乱(Metabolic disorders) 代谢紊乱NOS(disorder of metabolism NOS) Metabolic disorder Thesaurismosis 代谢紊乱NOS（紊乱） 未指定的代谢紊乱 MD - Metabolic disorders 代谢紊乱NOS(METABOLISM DISORDER NOS) Generalized metabolic disorder 代谢疾病(Metabolic Diseases) Metabolic disorders Metabolic Diseases 代谢紊乱 代谢疾病 MD-代谢紊乱 代谢疾病(METAB DIS) Metabolic disease, NOS disorder of metabolism NOS (disorder) Metabolic disorder, NOS 代谢性疾病，NOS 代谢紊乱，NOS 代谢紊乱(Metabolic disorder) METABOLISM DISORDER NOS 贮积病(Thesaurismoses) 代谢疾病（紊乱） disorder of metabolism NOS 贮积病(Thesaurismosis) Unspecified disorder of metabolism Generalised metabolic disorder METAB DIS Metabolic disease (disorder) disease of metabolism metabolism disorder 全身性代谢性紊乱(Generalised metabolic disorder) |
| 术语编辑者 |
James Malone |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0000589 | Cell Line Ontology (Chinese Translation) | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0014667 | Human Disease Ontology 123 | LOOM |