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5-amino-4-imidazolcarboxamideribosidurie (aandoening)
5-amino-4-imidazolcarboxamideribosidurie
ATIC-deficiƫntie
AICA-ribosidurie
5-amino-4-imidazole carboxamide ribosiduria
AICA (5-amino-4-imidazole carboxamide) ribosiduria
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency
An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35.
Id725289009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van macula lutea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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