ORPHA:169361
Immune dysregulation disease with immunodeficiency
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation disease with immunodeficiency | |
| fr | Maladie avec dérèglement et déficit immunitaire | Maladie avec dérèglement immunitaire avec immunodéficience |
| de | Immundysregulation mit Immundefekt | |
| es | Enfermedad de desregulación inmunológica con inmunodeficiencia | |
| it | Malattia da disregolazione immunitaria con immunodeficienza | |
| nl | Immuundisregulatie met immuundeficiëntie | |
| pt | Doença de imunodesregulação com imunodeficiência | |
| pl | Zaburzenie funkcjonowania układu immunologicznego z niedoborem odporności | |
| cs | Syndrom imunitní dysregulace s imunodeficiencí | |
| uk | Захворювання імунної дисрегуляції з імунодефіцитом | |
| zh | 免疫失调伴免疫缺陷 | |
| tr | İmmün yetmezlik ile seyreden immün düzensizlik hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15710 | E | validated | |
| UMLS | C5680458 | 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:179006Primary immunodeficiency due to a defect in adaptive immunity
rare genetic diseases; rare immunological diseases
Children (9):
- ORPHA:714477Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome
- ORPHA:664456Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
- ORPHA:714496Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome
- ORPHA:714423Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
- ORPHA:714472Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
- ORPHA:696874NFKB1-related immune dysregulation
- ORPHA:158038Primary hemophagocytic lymphohistiocytosis
Codes that Orphanet moved or referred to this one:
- ORPHA:454872OBSOLETE: Type 1 interferonopathy with immunodeficiency 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169361
- This record as JSON: /data/d/169361.json