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geïsoleerde deficiëntie van adenosinetrifosfaatsynthase (aandoening)
geïsoleerde deficiëntie van adenosinetrifosfaatsynthase
geïsoleerde ATP-synthasedeficiëntie
geïsoleerde adenosinetrifosfaatsynthasedeficiëntie
Isolated ATP synthase deficiency
Isolated adenosine triphosphate synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome.
Id780820008
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
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