ORPHA:54251
Aseptic abscess syndrome
Synonyms: Aseptic abscesses syndrome · Aseptic systemic abscesses · Corticosteroid-sensitive aseptic abscess syndrome · Disseminated aseptic abscesses
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aseptic abscess syndrome | Aseptic abscesses syndrome · Aseptic systemic abscesses · Corticosteroid-sensitive aseptic abscess syndrome · Disseminated aseptic abscesses |
| fr | Syndrome des abcès aseptiques corticosensibles | Abcès aseptiques disséminés · Abcès aseptiques systémiques · Syndrome des abcès aseptiques |
| de | Aseptisches Abszesssyndrom | Abszesse, aseptische disseminierte · Abszesse, aseptische systemische · Kortikosteroidsensitives aseptisches Abszesssyndrom · Syndrom der aseptischen Abszesse |
| es | Síndrome de absceso estéril | Abscesos estériles diseminados · Abscesos estériles sistémicos · Síndrome de absceso aséptico |
| it | Sindrome ascesso asettico | Ascessi asettici disseminati · Ascessi asettici sensibili ai corticosteroidi · Ascessi asettici sistemici · Sindrome da ascessi asettici |
| nl | Aseptisch abces-syndroom | Aseptische abcessen-syndroom · Aseptische systemische abcessen · Corticosteroïdesensitief aseptisch abces-syndroom · Gedissemineerde aseptische abcessen |
| pt | Síndrome de abcesso assético | Abcessos asséticos disseminados · Abcessos asséticos sistémicos · Síndrome de abcessos asséticos · Síndrome de abcessos asséticos cortico-sensíveis |
| pl | Aseptyczne ropnie wrażliwe na kortykosteroidy | Aseptyczne ropnie układowe · Rozsiane ropnie układowe · Zespół ropni aseptycznych |
| cs | Syndrom aseptického abscesu senzitivního na kortikosteroidy | Syndrom aseptického abscesu · Aseptické systémové abscesy · Diseminované aseptické abscesy |
| uk | Синдром асептичного абсцесу | Синдром асептичних абсцесів · Асептичні системні абсцеси · Синдром асептичного абсцесу, чутливого до кортикостероїдів · Дисеміновані асептичні абсцеси |
| zh | 皮质类固醇-敏感性无菌性脓肿综合征 | 弥散性无菌性脓肿 |
| tr | Kortikosteroide duyarlı aseptik apse sendromu | Aseptik apse sendromu · Aseptik sistemik apseler · Yaygın aseptik apseler |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | NTBT | attributed | validated |
| MONDO | 0018900 | E | validated | |
| UMLS | C4303863 | E | validated | |
| GARD | 10946 | 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:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2016-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0001945 | Fever | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0001903 | Anemia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0100523 | Liver abscess | |
| HP:0011897 | Neutrophilia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0030049 | Brain abscess | |
| HP:0002014 | Diarrhea | |
| HP:0003326 | Myalgia | |
| Very rare (<4-1%) | ||
| HP:0000077 | Abnormality of the kidney | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17505254[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/54251
- This record as JSON: /data/d/54251.json