| 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. |
| | Id | 1149103000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E72.2 | | Term | Stofwisselingsstoornissen van ureumcyclus |
|
| SNOMED CT to Orphanet simple map | 247525 |
| SNOMED CT to ICD-10 extended map | | Target | E72.2 | | Rule | TRUE | | Advice | ALWAYS E72.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
