T-B- severe combined immunodeficiency
Synonyms: T-B- SCID
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B- severe combined immunodeficiency | T-B- SCID |
| fr | Déficit immunitaire combiné sévère T-B- | DICS T-B- · IDCS T-B- · Immunodéficience combinée sévère T-B- · SCID T-B- |
| de | Immundefekt, kombinierter schwerer, T-B- | = en |
| es | Inmunodeficiencia combinada grave T-B- | IDCG T-B- · T-B- SCID |
| it | Immunodeficienza combinata grave T-B- | = en |
| nl | T-B- ernstige gecombineerde immuundeficiëntie | = en |
| pt | Imunodeficiência combinada grave T-B- | = en |
| pl | Ciężki złożony Niedobór odporności T-B- | = en |
| cs | T-B- těžká kombinovaná imunodeficience | = en |
| uk | T-B- тяжкий комбінований імунодефіцит | T-B- ТКІД |
| zh | T-B- 重症联合免疫缺陷 | = en |
| tr | T-B- ağır kombine immün yetmezlik | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D81.1 | E | specific | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0017855 | E | validated | |
| MONDO | 17855 | E | validated | |
| UMLS | C5679893 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183660Severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/317419
- This record as JSON: /data/d/317419.json