ORPHA:619238
Rare hereditary autoinflammatory disease
- 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
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare hereditary autoinflammatory disease | |
| fr | Maladie auto-inflammatoire héréditaire rare | |
| de | Seltene hereditäre autoinflammatorische Krankheit | |
| es | Enfermedad autoinflamatoria hereditaria rara | |
| it | Malattia autoinfiammatoria ereditaria rara | |
| nl | Zeldzame hereditaire auto-inflammatoire aandoening | Zeldzame erfelijke auto-inflammatoire aandoening |
| pt | Doença autoinflamatória hereditária rara | |
| pl | Rzadka dziedziczna choroba autozapalna | |
| cs | Vzácné dědičné autoinflamatorní onemocnění | |
| uk | Рідкісне спадкове аутозапальне захворювання |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816810 | 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 (1):
- ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases
Children (16):
- ORPHA:90340Blau syndrome
- ORPHA:184Cherubism
- ORPHA:404546DITRA
- ORPHA:674762Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
- ORPHA:652510Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
- ORPHA:324924Hereditary periodic fever syndrome
- ORPHA:251523Hyperzincemia and hypercalprotectinemia
- ORPHA:77297Majeed syndrome
- ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
- ORPHA:619363NOCARH syndrome
- ORPHA:294023Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- ORPHA:48104Pyoderma gangrenosum
- ORPHA:210115Sterile multifocal osteomyelitis with periostitis and pustulosis
- ORPHA:3243Sweet syndrome
- ORPHA:477647Type 1 interferonopathy
- ORPHA:676125X-linked immune dysregulation with inflammatory bowel disease due to ELF4 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619238
- This record as JSON: /data/d/619238.json