| Descriptor English: | Brain Diseases, Metabolic, Inborn | ||||||
| Descriptor Spanish: |
Encefalopatías Metabólicas Innatas
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| Descriptor Portuguese: | Encefalopatias Metabólicas Congênitas | ||||||
| Descriptor French: | Encéphalopathies métaboliques congénitales | ||||||
| Entry term(s): |
Brain Diseases, Metabolic, Familial Brain Diseases, Metabolic, Inherited Brain Syndrome, Metabolic, Inborn CNS Metabolic Disorders, Inborn Central Nervous System Inborn Metabolic Diseases Central Nervous System Inborn Metabolic Disorders Encephalopathies, Metabolic, Inborn Familial Metabolic Brain Diseases Familial Metabolic Disorders, Brain Inborn Errors of Metabolism, Brain Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Inborn Metabolic Disorders, Brain Inherited Metabolic Brain Diseases Inherited Metabolic Disorders, Brain Metabolic Brain Diseases, Familial Metabolic Brain Diseases, Inborn Metabolic Brain Diseases, Inherited Metabolic Brain Syndrome, Inborn Metabolic Diseases, Inborn, Brain Metabolic Diseases, Inborn, Central Nervous System Metabolic Disorders, Brain, Inherited Metabolic Disorders, CNS, Inborn Metabolic Disorders, Familial, Brain |
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| Tree number(s): |
C10.228.140.163.100 C16.320.565.189 C18.452.132.100 C18.452.648.189 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020739 | ||||||
| Scope note: | 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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| Annotation: | general or unspecified, prefer specifics |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Brain/metabolism (1968-1999) Hereditary Diseases (1968-1999) Metabolic Diseases/genetics (1968-1999) Metabolism, Inborn Errors (1972-1999) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| Entry Version: | BRAIN DIS METAB INBORN |
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| Related: |
Intellectual Disability
MeSH | ||||||
| DeCS ID: | 34228 | ||||||
| Unique ID: | D020739 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/03 | ||||||
| Revision Date: | 2011/07/05 |
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Brain Diseases, Metabolic, Inborn
- Preferred
Central Nervous System Inborn Metabolic Diseases
- Broader
Brain Diseases, Metabolic, Inherited
- Narrower
| Concept UI |
M0328165 |
| Scope note | 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. |
| Preferred term | Brain Diseases, Metabolic, Inborn |
| Entry term(s) |
Brain Syndrome, Metabolic, Inborn Encephalopathies, Metabolic, Inborn Inborn Errors of Metabolism, Brain Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, Inborn Metabolic Brain Syndrome, Inborn Metabolic Diseases, Inborn, Brain |
| Concept UI |
M0335525 |
| Preferred term | Central Nervous System Inborn Metabolic Diseases |
| Entry term(s) |
CNS Metabolic Disorders, Inborn Central Nervous System Inborn Metabolic Disorders Metabolic Diseases, Inborn, Central Nervous System Metabolic Disorders, CNS, Inborn |
| Concept UI |
M0335526 |
| Preferred term | Brain Diseases, Metabolic, Inherited |
| Entry term(s) |
Brain Diseases, Metabolic, Familial Familial Metabolic Brain Diseases Familial Metabolic Disorders, Brain Inherited Metabolic Brain Diseases Inherited Metabolic Disorders, Brain Metabolic Brain Diseases, Familial Metabolic Brain Diseases, Inherited Metabolic Disorders, Brain, Inherited Metabolic Disorders, Familial, Brain |
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