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5-amino-4-imidazolcarboxamideribosidurie (aandoening)
5-amino-4-imidazolcarboxamideribosidurie
AICA-ribosidurie
ATIC-deficiƫntie
5-amino-4-imidazole carboxamide ribosiduria
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency
AICA (5-amino-4-imidazole carboxamide) ribosiduria
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.
Id725289009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van macula lutea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE79.8
TermOverige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme
SNOMED CT to Orphanet simple map250977
SNOMED CT to ICD-10 extended map
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified