Autosomal recessive hereditary disorder	Congenital anomaly of limb	Congenital anomaly of macula	Developmental hereditary disorder	Disorder of purine metabolism	Hereditary macular dystrophy	Hereditary metabolic disease	Intellectual disability	Multiple malformation syndrome with limb defect as major feature
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5-amino-4-imidazole carboxamide ribosiduria (disorder)
	5-amino-4-imidazole carboxamide ribosiduria
	ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency AICA (5-amino-4-imidazole carboxamide) ribosiduria
	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.
	5-amino-4-imidazolcarboxamideribosidurie
	ATIC-deficiëntie AICA-ribosidurie

Id	725289009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Limb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dystrophy
Finding site	Macula lutea structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E79.8
Rule	TRUE
Advice	ALWAYS E79.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified