ORPHA:522043
Syndromic autoimmune enteropathy
- Type
- Clinical group
- 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 | Syndromic autoimmune enteropathy | |
| fr | Entéropathie autoimmune syndromique | |
| de | Autoimmun-Enteropathie, syndromale | |
| es | Enteropatía autoinmune sindrómica | |
| it | Enteropatia autoimmune sindromica | |
| nl | Syndromale auto-immune enteropathie | |
| pt | Enteropatia autoimune sindromática | |
| pl | Zespół enteropatii autoimmunologicznej | |
| cs | Syndromická autoimunitní enteropatie | |
| uk | Синдромна аутоімунна ентеропатія | |
| zh | 综合征性自身免疫性肠病 | |
| tr | Sendromik otoimmün enteropati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681440 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:94075Severe immune-mediated enteropathy
rare gastroenterological diseases
Children (9):
- ORPHA:436159Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- ORPHA:3453Autoimmune polyendocrinopathy type 1
- ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:169100Immunodeficiency due to CD25 deficiency
- ORPHA:220465Laron syndrome with immunodeficiency
- ORPHA:391487STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:438159STAT3-related early-onset multisystem autoimmune disease
- ORPHA:445018Syndromic autoimmune enteropathy due to LRBA deficiency
- ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency
Codes that Orphanet moved or referred to this one:
- ORPHA:103916OBSOLETE: Autoimmune enteropathy type 2 referred to · inactive
- ORPHA:103917OBSOLETE: Autoimmune enteropathy type 3 referred to · inactive
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522043
- This record as JSON: /data/d/522043.json