ORPHA:271870
Rare genetic systemic or rheumatologic 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
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic systemic or rheumatologic disease | |
| fr | Maladie systémique ou rhumatologique rare d'origine génétique | |
| de | Seltene genetisch bedingte systemische oder rheumatologische Krankheit | |
| es | Enfermedades sistémicas genéticas raras | |
| it | Malattia sistemica genetica rara | |
| nl | Zeldzame genetische systemische of reumatologische ziekte | |
| pt | Doença genética sistémica | |
| pl | Rzadka choroba układowa lub reumatologiczna uwarunkowana genetycznie | |
| cs | Vzácná geneticky podmíněná systémová nebo revmatologická onemocnění | |
| uk | Рідкісне генетично обумовлене системне або ревматологічне захворювання | |
| zh | 罕见遗传性全身或风湿疾病 | |
| tr | Nadir genetik sistemik veya romatolojik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680758 | 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:98053Rare genetic disease
rare genetic diseases
Children (14):
- ORPHA:444092Autoimmune interstitial lung disease-arthritis syndrome
- ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:658951Early-onset immune dysregulation due to DOCK11 complete deficiency
- ORPHA:2295Familial articular hypermobility syndrome
- ORPHA:1416Familial calcium pyrophosphate deposition
- ORPHA:444116Hereditary amyloidosis
- ORPHA:722Hypoplasminogenemia
- ORPHA:529977Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
- ORPHA:329967Intermittent hydrarthrosis
- ORPHA:521450LAMA5-related multisystemic syndrome
- ORPHA:679Malignant atrophic papulosis
- ORPHA:300382Progeroid and marfanoid aspect-lipodystrophy syndrome
- ORPHA:619238Rare hereditary autoinflammatory disease
- ORPHA:619249Rare hereditary connective tissue disease
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/271870
- This record as JSON: /data/d/271870.json