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Gitelman-achtige renale tubulopathie door mutatie in mitochondriaal deoxyribonucleïnezuur (aandoening)
Gitelman-achtige renale tubulopathie door mutatie in mitochondriaal DNA
Gitelman-achtige tubulaire nierziekte door mutatie in mtDNA
Gitelman-achtige renale tubulopathie door mutatie in mitochondriaal deoxyribonucleïnezuur
Gitelman-achtige tubulaire nefropathie door mutatie in mitochondrieel desoxyribonucleïnezuur
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation
Gitelman-like kidney tubulopathy due to mtDNA (mitochondrial deoxyribonucleic acid) mutation
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients.
Id1363284002
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified