Disorder of peroxisomal function
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Loss of single peroxisomal function (disorder)
Loss of single peroxisomal function
geïsoleerde peroxisomale enzymdeficiëntie
Id238066006
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE71.3
RuleTRUE
AdviceALWAYS E71.3
CorrelationSNOMED CT source code to target map code correlation not specified
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Acatalasemia
Acyl-CoA oxidase deficiency
Adrenoleukodystrophy3
Bifunctional peroxisomal enzyme deficiency
Contiguous ABCD1 DXS1357E deletion syndrome
Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia
Glutaryl-CoA oxidase deficiency
Isolated alkyldihydroxyacetone phosphate synthase deficiency
Isolated dihydroxyacetone phosphate acyltransferase deficiency
Leukoencephalopathy, dystonia, motor neuropathy syndrome
Peroxisomal thiolase deficiency
Primary hyperoxaluria, type I