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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000004169
http://purl.bioontology.org/ontology/NDFRT/N0000004169
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|---|---|
| Preferred Name | Brain Diseases, Metabolic, Inborn [Disease/Finding] |
| Synonyms |
Brain Syndrome, Metabolic, Inborn
Inborn Metabolic Brain Diseases
Inborn Metabolic Brain Disorders
Metabolic Diseases, Inborn, Brain
Metabolic Brain Syndrome, Inborn
Inborn Metabolic Disorders, Brain
Metabolic Brain Diseases, Inborn
Brain Diseases, Metabolic, Inborn
Inborn Errors of Metabolism, Brain
Encephalopathies, Metabolic, Inborn
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Brain Syndrome, Metabolic, Inborn
Inborn Metabolic Brain Diseases
Inborn Metabolic Brain Disorders
Metabolic Diseases, Inborn, Brain
Metabolic Brain Syndrome, Inborn
Inborn Metabolic Disorders, Brain
Metabolic Brain Diseases, Inborn
Brain Diseases, Metabolic, Inborn
Inborn Errors of Metabolism, Brain
Encephalopathies, Metabolic, Inborn
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| prefLabel | Brain Diseases, Metabolic, Inborn [Disease/Finding]
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| MESH DEFINITION | Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
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| MESH DUI | D020739
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| MESH UI | M0328165
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| MeSH name | Brain Diseases, Metabolic, Inborn
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| type | |
| tui | T047
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| notation | N0000004169
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| Semantic type UMLS property | |
| NUI | N0000004169
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| cui | C0752109
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
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