autosomaal recessieve hereditaire aandoening	congenitale afwijking van extremiteit	congenitale afwijking van macula	hereditaire maculadystrofie	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	stoornis in purinemetabolisme	verstandelijke beperking
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5-amino-4-imidazolcarboxamideribosidurie (aandoening)
	5-amino-4-imidazolcarboxamideribosidurie
	AICA-ribosidurie ATIC-deficiëntie
	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.

Id	725289009
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van macula lutea
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E79.8
Term	Overige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme

SNOMED CT to Orphanet simple map

250977

SNOMED CT to ICD-10 extended map

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