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mucolipidose 2 (aandoening)
mucolipidose 2
mucolipidosis type 2
'I-cell'-ziekte
I-cell disease
I-cell - Inclusion cell disease
N-acetylglucosamine-1-phosphotransferase deficiency
Mucolipidosis II
Mucolipidosis type II
Id70199000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.0
TermOnvolledige modificatie van lysosomale enzymen na translatie
SNOMED CT to Orphanet simple map576
SNOMED CT to ICD-10 extended map
TargetE77.0
RuleTRUE
AdviceALWAYS E77.0
CorrelationSNOMED CT source code to target map code correlation not specified
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