OrphanAnesthesia

Name der Erkrankung:  Urea Cycle Disorders

ICD 10:  E72.2

Synonyme:  Disorders of Urea cycle metabolism, UCDs, Hyperammonaemia

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

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

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

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

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

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

Name:                        Hyperornithinemia-hyperammonemia-homocitrullinuria OMIM: 230 970
                                   Synonyms: HHH syndrome

Zitierfähige Version zum Download in der Zeitschrift A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s291