ORPHA:79167
Disorder of urea cycle metabolism and ammonia detoxification
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of urea cycle metabolism and ammonia detoxification | |
| fr | Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac | |
| de | Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung | |
| es | Trastornos del metabolismo del ciclo de la urea y de la detoxificación del amonio | |
| it | Difetto del metabolismo del ciclo dell'urea e disintossicazione da ammoniaca | |
| nl | Stoornis van ureumcyclus en ammoniakdetoxificatie | |
| pt | Doença do metabolismo do ciclo da ureia e destoxificação da amónia | |
| pl | Zaburzenie metabolizmu cyklu mocznikowego i detoksykacji amoniaku | |
| cs | Poruchy močovinového cyklu a detoxikace amoniaku | |
| uk | Порушення метаболізму циклу сечовини та детоксикації аміаку | |
| zh | 尿素循环代谢和氨解毒异常 | |
| tr | Üre döngüsü metabolizması bozukluğu ve amonyak detoksifikasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E72.2 | E | specific | validated |
| MONDO | 4739 | E | validated | |
| UMLS | C5681290 | E | validated | |
| GARD | 7837 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (9):
- ORPHA:90Argininemia
- ORPHA:23Argininosuccinic aciduria
- ORPHA:147Carbamoyl-phosphate synthetase 1 deficiency
- ORPHA:187Citrullinemia
- ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency
- ORPHA:401948Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- ORPHA:35878Hyperinsulinism-hyperammonemia syndrome
- ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- ORPHA:664Ornithine transcarbamylase deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79167
- This record as JSON: /data/d/79167.json