loading...| Preferred Name |
Congenital Metabolic Disorder |
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| Synonyms |
Inborn error of metabolism NOS Metabolism Errors, Inborn Metabolism Inborn Errors Metabolism Error, Inborn Errors Metabolism, Inborn IEM - Inborn error of metabolism Inborn Errors Metabolism Inborn Errors Metabolisms Inborn error of metabolism (disorder) Inborn Metabolism Error IBEM - Inborn error of metabolism inborn metabolism disorder Metabolism, Inborn Errors Inborn error of metabolism Errors, Inborn Metabolism Metabolism Inborn Error Congenital Metabolism Disorder INBORN ERR METAB METAB ERR INBORN Metabolism, Inborn Errors [Disease/Finding] Congenital Metabolic Disorder Error, Inborn Metabolism METAB INBORN ERR Inborn errors of metabolism Inborn Metabolism Errors Errors Metabolisms, Inborn Metabolisms, Inborn Errors |
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| Definitions |
[NCIt Definition]: A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [MSH Definition]: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [CSP Definition]: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0025521 |
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| Definition |
[NCIt Definition]: A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [MSH Definition]: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [CSP Definition]: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. |
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| External Source |
https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0025521 |
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| Label |
Congenital Metabolic Disorder |
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| notation |
C0025521 |
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| PAT ID |
C0025521 |
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| prefLabel |
Congenital Metabolic Disorder |
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| Sub Class Of | ||
| Synonyms |
Inborn error of metabolism NOS Metabolism Errors, Inborn Metabolism Inborn Errors Metabolism Error, Inborn Errors Metabolism, Inborn IEM - Inborn error of metabolism Inborn Errors Metabolism Inborn Errors Metabolisms Inborn error of metabolism (disorder) Inborn Metabolism Error IBEM - Inborn error of metabolism inborn metabolism disorder Metabolism, Inborn Errors Inborn error of metabolism Errors, Inborn Metabolism Metabolism Inborn Error Congenital Metabolism Disorder INBORN ERR METAB METAB ERR INBORN Metabolism, Inborn Errors [Disease/Finding] Congenital Metabolic Disorder Error, Inborn Metabolism METAB INBORN ERR Inborn errors of metabolism Inborn Metabolism Errors Errors Metabolisms, Inborn Metabolisms, Inborn Errors |