citrullinemie
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citrullinemie type 1 (aandoening)
citrullinemie type 1
citrullinemie type 1 gerelateerd aan deficiëntie van argininosuccinaatsynthase
citrullinemie type 1 gerelateerd aan ASS-deficiëntie
citrullinemie type 1 gerelateerd aan argininosuccinaatsynthetase-deficiëntie
citrullinemie type I
Citrullinemia type I
Classic citrullinemia
Citrullinemia type 1
Argininosuccinate synthase 1-gene related citrullinemia type I
ASS1-gene related citrullinemia type I
A rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.
Id1149103000
StatusPrimitive
Due todeficiëntie van argininosuccinaatsynthase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.2
TermStofwisselingsstoornissen van ureumcyclus
SNOMED CT to Orphanet simple map247525
SNOMED CT to ICD-10 extended map
TargetE72.2
RuleTRUE
AdviceALWAYS E72.2
CorrelationSNOMED CT source code to target map code correlation not specified
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laat optredende citrullinemie type 1