ORPHA:622720
Genetic autoinflammatory syndrome with skin involvement
- 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 | Genetic autoinflammatory syndrome with skin involvement | |
| fr | Syndrome auto-inflammatoire génétique avec atteinte cutanée | |
| de | Genetisch bedingtes Autoinflammatorisches Syndrom mit Hautbeteiligung, | |
| es | Síndrome autoinflamatorio genético con afectación cutánea | |
| it | Sindrome genetica autoinfiammatoria con interessamento cutaneo | |
| nl | Genetisch auto-inflammatoir syndroom met betrokkenheid van huid | |
| pt | Síndrome autoinflamatório genético com envolvimento da pele | |
| pl | Genetyczny zespół autozapalny z zajęciem skóry | |
| cs | Genetický autoinflamatorní syndrom s postižením kůže | |
| uk | Генетично обумовлений аутозапальний синдром з ураженням шкіри |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681827 | 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:68346Rare genetic skin disease
rare genetic diseases
Children (20):
- ORPHA:90340Blau syndrome
- ORPHA:404546DITRA
- ORPHA:674762Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
- ORPHA:617919F12-associated cold autoinflammatory syndrome
- ORPHA:652510Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
- ORPHA:251523Hyperzincemia and hypercalprotectinemia
- ORPHA:77297Majeed syndrome
- ORPHA:309025Mevalonate kinase deficiency
- ORPHA:576349NLRC4-related familial cold autoinflammatory syndrome
- ORPHA:247868NLRP12-associated hereditary periodic fever syndrome
- ORPHA:208650NLRP3-associated autoinflammatory disease
- ORPHA:619363NOCARH syndrome
- ORPHA:294023Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- ORPHA:436166Periodic fever-infantile enterocolitis-autoinflammatory syndrome
- ORPHA:324977Proteasome-associated autoinflammatory syndrome
- ORPHA:619367SAMD9L-associated autoinflammatory syndrome
- ORPHA:425120STING-associated vasculopathy with onset in infancy
- ORPHA:210115Sterile multifocal osteomyelitis with periostitis and pustulosis
- ORPHA:3243Sweet syndrome
- ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome
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/622720
- This record as JSON: /data/d/622720.json