| 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
| | Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form. |
| | 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 |
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| SNOMED CT to Orphanet simple map | 247525 |
| SNOMED CT to ICD-10 extended map | | Target | E72.2 | | Rule | TRUE | | Advice | ALWAYS E72.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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