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deficiëntie van NAD(P)HX-dehydratase (aandoening)
deficiëntie van NAD(P)HX-dehydratase
CARKD-deficiëntie
NAD(P)HX dehydratase deficiency
CARKD deficiency
A rare neurometabolic disease with characteristics of infantile onset of repeated episodes of developmental regression and neurodegeneration often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy and pancytopenia have been reported in association. The condition is fatal in the first years of life.
Id1251446004
StatusPrimitive
Occurrencecongenitaal
Associated morphologyatrophia
Finding sitestructuur van cerebrum
SNOMED CT to Orphanet simple map555402
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