ORPHA:331220
Syndome with combined immunodeficiency due to thymic defect
- 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 | Syndome with combined immunodeficiency due to thymic defect | |
| fr | Syndrome avec déficit immunitaire combiné dû à un défaut thymique | Immunodéficience par absence de thymus |
| de | Syndrom mit kombiniertem Immundefekt und Thymusdefekt | CID mit Thymusdefekt |
| es | Síndrome de inmunodeficiencia combinada por defecto tímico | |
| it | Sindrome con immunodeficienza combinata da difetto del timo | |
| nl | Syndroom met gecombineerde immuundeficiëntie door defect van thymus | |
| pt | Síndrome de imunodeficiência combinada devido a defeito tímico | |
| pl | Niedobór odporności spowodowany brakiem grasicy | |
| cs | Imunodeficience způsobená chyběním brzlíku | |
| uk | Синдром комбінованого імунодефіциту внаслідок ураження тимусу | |
| zh | 胸腺缺失所致免疫缺陷 | |
| tr | Timus yokluğuna bağlı immün yetmezlik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18036 | E | validated | |
| UMLS | C5925009 | 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:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
Children (7):
- ORPHA:68769510p13-p14 deletion syndrome
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:685017Combined immunodeficiency due to TBX1 mutation
- ORPHA:2308Jacobsen syndrome
- ORPHA:720357Otofaciocervical syndrome with thymic hypoplasia
- ORPHA:169095T-B+NK+ severe combined immunodeficiency due to FOXN1 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/331220
- This record as JSON: /data/d/331220.json