An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurol

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hyperactivité de la phosphoribosylpyrophosphate synthétase

SNOMEDCT-BE (severe PRPP synthetase superactivity) and a mild late-onset form with no neurol / 723454008

SNOMEDCT-BE (disorder) / 723454008

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

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Renal tubulo-interstitial disorders in metabolic diseases

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

Maladie rénale tubulo-interstitielle au cours de maladies métaboliques

WORLD HEALTH ORGANIZATION ICD-10: N16.3*

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

https://icd.who.int/browse10/2 (...) [HTML] [2018-01-01]

Other disorders of purine and pyrimidine metabolism

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Autres anomalies du métabolisme de la purine et de la pyrimidine

WORLD HEALTH ORGANIZATION ICD-10: E79.8

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

https://icd.who.int/browse10/2 (...) [HTML] [2018-01-01]

Disorders of purine and pyrimidine metabolism

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Anomalies du métabolisme de la purine et de la pyrimidine

WORLD HEALTH ORGANIZATION ICD-10: E79

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

https://icd.who.int/browse10/2 (...) [HTML] [2018-01-01]

inborn error of metabolism | inborn metabolic disorder

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maladie enzymatique

médecine

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http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]

disorder of cholesterol metabolism

http://iate.europa.eu/FindTerm (...) (...) [HTML] [2017-12-31]

trouble du métabolisme du cholestérol

IATE - Health

http://iate.europa.eu/FindTerm (...) (...) [HTML] [2017-12-31]

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metabolic disorder

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trouble du métabolisme

IATE - Health

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Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic

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encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA

SNOMEDCT-BE (disorder) / 764456001

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metabolic disorder

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perturbation du métabolisme

médecine

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http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]

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