OrphanAnesthesia

Disease name:  Urea Cycle Disorders

ICD 10:  E72.2

Synonyms:  Disorders of Urea cycle metabolism, UCDs, Hyperammonaemia

Disease name:           N-acetylglutamate synthase deficiency                ICD 10: E72.2
                                   Synonyms: NAGS deficiency, NAGSD

Disease name:           Carbamylphosphate synthetase deficiency          ICD 10: E72.2
                                   Synonyms: CPS deficiency, CPS 1 deficiency,
                                   Carbamylphosphate synthetase 1 deficiency, CPS1D

Disease name:           Ornithine Transcarbamylase Deficiency               ICD 10: E72.4
                                   Synonyms: OTC deficiency, OTCD

Disease name:           Citrullinemia                                                             ICD 10: E72.2
                                   Synonyms: Arginosuccinate Synthetase Deficiency,
                                   ASSD

Disease name:           Argininosuccinate lyase deficiency                       ICD 10: E72.2
                                   Synonyms: Argininosuccinic aciduria, ASL deficiency,
                                   ASLD

Disease name:           Argininaemia                                                            ICD 10: E72.2
                                   Synonyms: Arginase deficiency, Hyperargininemia,
                                   ARG1D

Disease name:           Hyperornithinemia-hyperammonemia-homocitrullinuria OMIM: 230 970
                                   Synonyms: HHH syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s291