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atypische ziekte van Krabbe door deficiƫntie van saposine A (aandoening)
atypische ziekte van Krabbe door deficiƫntie van saposine A
atypische ziekte van Krabbe door saposine A-tekort
Atypical Krabbe disease due to saposin A deficiency
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.
Id1296731001
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van encephalon
Occurrencezuigelingenperiode
SNOMED CT to ICD-10 extended map
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified