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ziekte van Tangier (aandoening)
ziekte van Tangier
Tangier-ziekte
Tangier disease
Defective adenosine triphosphate-binding cassette transporter A1
A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.
Id723579009
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.6
TermLipoproteïnedeficiëntie
SNOMED CT to Orphanet simple map31150
SNOMED CT to ICD-10 extended map
TargetE78.6
RuleTRUE
AdviceALWAYS E78.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified